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.D401N

c.1201G>A

Surrounding Variants

1 paper

NM_004655.4

p.E400_D401Splc

c.1201-2A>G

1 paper

NM_004655.4

p.E400_D401Splc

c.1201-3C>T

2 papers

NM_004655.4

p.E403Q

c.1207G>C

1 paper

NM_004655.4

p.E403D

c.1209G>T

1 paper

NM_004655.4

p.E403D

c.1209G>C

1 paper

NM_004655.4

p.E403delFs

c.1209delC

1 paper

NM_004655.4

p.E405K

c.1213G>A

2 papers

NM_004655.4

p.E405fs

c.1213_1214fs

5 papers

NM_004655.4

p.E405fs

c.1213_1214fs

1 paper

NM_004655.4

p.E405insFs

c.1214_1215dupAG

5 papers

NM_004655.4

p.E405delFs

c.1214_1215delCT

2 papers

NM_004655.4

p.R404_E405delFs

c.1212_1215del4