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.S143N

c.428G>A

Surrounding Variants

1 paper

NM_004655.4

p.I144_V145ins5

c.430_434ins15

11 papers

NM_004655.4

p.I144I

c.432T>C

1 paper

NM_004655.4

p.N141K

c.423C>G

1 paper

NM_004655.4

p.N141K

c.423C>A

1 paper

NM_004655.4

p.K147Q

c.439A>C

1 paper

NM_004655.4

p.K147R

c.440A>G

1 paper

NM_004655.4

p.Q148*

c.442C>T

1 paper

NM_004655.4

p.Y138C

c.413A>G

1 paper

NM_004655.4

p.R137delFs

c.409delT

1 paper

NM_004655.4

p.R137R

c.409A>C

1 paper

NM_004655.4

p.K150E

c.448A>G

1 paper

NM_004655.4

p.K150R

c.449A>G