Varaico: Literature-Extracted Genetic Variants

AXIN2

682 papers

RefSeq Summary

The Axin-related protein, Axin2, presumably plays an important role in the regulation of the stability of beta-catenin in the Wnt signaling pathway, like its rodent homologs, mouse conductin/rat axil....

Pfam Domains

AXIN1_TNKS_BDaa 9–75UCSCAxin-1 tankyrase binding domain

RGSaa 81–199UCSCRegulator of G protein signaling domain

Axin_b-cat_bindaa 433–469UCSCAxin beta-catenin binding motif

DIXaa 763–839UCSCDIX domain

Gene Aliases

HGNC Name

axin 2

HGNC Alias Symbols

MGC126582; DKFZp781B0869

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004655.4

p.R675fs

c.2023_2024fs

Surrounding Variants

1 paper

NM_004655.4

p.R675G

c.2023C>G

3 papers

NM_004655.4

p.R675insFs

c.2023dupC

1 paper

NM_004655.4

p.R675H

c.2024G>A

1 paper

NM_004655.4

p.R675delFs

c.2023delG

7 papers

NM_004655.4

p.R671_R675del0

c.2013_2024del12

1 paper

NM_004655.4

p.P674T

c.2020C>A

1 paper

NM_004655.4

p.H677Y

c.2029C>T

2 papers

NM_004655.4

p.T673P

c.2017A>C

1 paper

NM_004655.4

p.T672_T673delins

c.2014_2017delinsCCCC

1 paper

NM_004655.4

p.T672insFs

c.2015_2016insA

1 paper

NM_004655.4

p.R671P

c.2012G>C

2 papers

NM_004655.4

p.R671delFs

c.2011delG