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.W78*

c.233G>A

Surrounding Variants

1 paper

NM_004655.4

p.W78*

c.234G>A

1 paper

NM_004655.4

p.T79A

c.235A>G

1 paper

NM_004655.4

p.R77Q

c.230G>A

2 papers

NM_004655.4

p.R77W

c.229C>T

1 paper

NM_004655.4

p.K80E

c.238A>G

1 paper

NM_004655.4

p.S81S

c.243C>T

1 paper

NM_004655.4

p.R77_S81delFs

c.230_242del13

1 paper

NM_004655.4

p.P74insFs

c.221dupC

1 paper

NM_004655.4

p.P74fs

c.220_221fs

1 paper

NM_004655.4

p.S73_P74insFs

c.219_220insG

1 paper

NM_004655.4

p.L82insFs

c.246dupA

1 paper

NM_004655.4

p.S73insFs

c.218_219insG