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.V181G

c.542T>G

Surrounding Variants

1 paper

NM_004655.4

p.V181fs

c.541_542fs

2 papers

NM_004655.4

p.M182V

c.544A>G

1 paper

NM_004655.4

p.S180L

c.539C>T

1 paper

NM_004655.4

p.Q179R

c.536A>G

2 papers

NM_004655.4

p.E184G

c.551A>G

1 paper

NM_004655.4

p.N185fs

c.553_554fs

1 paper

NM_004655.4

p.E177G

c.530A>G

1 paper

NM_004655.4

p.N185delFs

c.554delT

1 paper

NM_004655.4

p.Y187D

c.559T>G

1 paper

NM_004655.4

p.Y187H

c.559T>C

1 paper

NM_004655.4

p.Y187delFs

c.559delA

1 paper

NM_004655.4

p.A186_Y187delFs

c.556_559del4