KEGG VARIANT: 8312v1

VARIANT: 8312v1

Entry

8312v1                      Variant

Name

AXIN1 mutation

Type

Loss of function

Gene

AXIN1 axin 1 [KO:K02157]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutation P345L
COSM: 142849

Variation

mutation L106R
COSM: 142850

Variation

mutation G425S
COSM: 4387483

Network

nt06215  WNT signaling (cancer)
nt06263  Hepatocellular carcinoma
nt06505  WNT signaling

Disease

H00048

Hepatocellular carcinoma

Reference

PMID:10700176

Authors

Satoh S, Daigo Y, Furukawa Y, Kato T, Miwa N, Nishiwaki T, Kawasoe T, Ishiguro H, Fujita M, Tokino T, Sasaki Y, Imaoka S, Murata M, Shimano T, Yamaoka Y, Nakamura Y

Title

AXIN1 mutations in hepatocellular carcinomas, and growth suppression in cancer cells by virus-mediated transfer of AXIN1.

Journal

Nat Genet 24:245-50 (2000)
DOI:10.1038/73448

Reference

PMID:15735151

Authors

Salahshor S, Woodgett JR

Title

The links between axin and carcinogenesis.

Journal

J Clin Pathol 58:225-36 (2005)
DOI:10.1136/jcp.2003.009506

Reference

PMID:12101426

Authors

Taniguchi K, Roberts LR, Aderca IN, Dong X, Qian C, Murphy LM, Nagorney DM, Burgart LJ, Roche PC, Smith DI, Ross JA, Liu W

Title

Mutational spectrum of beta-catenin, AXIN1, and AXIN2 in hepatocellular carcinomas and hepatoblastomas.

Journal

Oncogene 21:4863-71 (2002)
DOI:10.1038/sj.onc.1205591

Reference

PMID:25236910

Authors

Mazzoni SM, Fearon ER

Title

AXIN1 and AXIN2 variants in gastrointestinal cancers.

Journal

Cancer Lett 355:1-8 (2014)
DOI:10.1016/j.canlet.2014.09.018

Reference

PMID:23879168

Authors

Li J, Quan H, Liu Q, Si Z, He Z, Qi H

Title

Alterations of axis inhibition protein 1 (AXIN1) in hepatitis B virus-related hepatocellular carcinoma and overexpression of AXIN1 induces apoptosis in hepatocellular cancer cells.

Journal

Oncol Res 20:281-8 (2013)
DOI:10.3727/096504013X13639794277608

All links

Gene (3)   
   COSM (3)   
All databases (3)   

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