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

2 papers

NM_004655.4

p.W663G

c.1987T>G

Surrounding Variants

2 papers

NM_004655.4

p.W663fs

c.1987_1988fs

3 papers

NM_004655.4

p.W663insFs

c.1987dupT

11 papers

NM_004655.4

p.W663*

c.1988G>A

8 papers

NM_004655.4

p.L662P

c.1985T>C

1 paper

NM_004655.4

p.W663fs

c.1987_1988fs

18 papers

NM_004655.4

p.W663*

c.1989G>A

1 paper

NM_004655.4

p.H661H

c.1983T>C

1 paper

NM_004655.4

p.G664V

c.1991G>T

1 paper

NM_004655.4

p.G664G

c.1992G>A

9 papers

NM_004655.4

p.G665fs

c.1993_1994fs

1 paper

NM_004655.4

p.G665A

c.1994G>C

23 papers

NM_004655.4

p.G665insFs

c.1994_1995insG

NM_001363813.1

p.G600insFs

c.1994dupG