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.E66K

c.196G>A

Surrounding Variants

1 paper

NM_004655.4

p.P65Q

c.194C>A

2 papers

NM_004655.4

p.G67R

c.199G>C

2 papers

NM_004655.4

p.G67R

c.199G>A

1 paper

NM_004655.4

p.G67V

c.200G>T

1 paper

NM_004655.4

p.G63delFs

c.189delC

4 papers

NM_004655.4

p.R68Q

c.203G>A

1 paper

NM_004655.4

p.A69T

c.205G>A

1 paper

NM_004655.4

p.A69fs

c.205_206fs

1 paper

NM_004655.4

p.S70P

c.208T>C

1 paper

NM_004655.4

p.S70F

c.209C>T

1 paper

NM_004655.4

p.P71L

c.212C>T

1 paper

NM_004655.4

p.P65_P71delFs

c.195_211del17