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.R465C

c.1393C>T

Surrounding Variants

2 papers

NM_004655.4

p.R465H

c.1394G>A

1 paper

NM_004655.4

p.R463R

c.1389C>T

1 paper

NM_004655.4

p.R463fs

c.1387_1388fs

1 paper

NM_004655.4

p.R463H

c.1388G>A

1 paper

NM_004655.4

p.R463delFs

c.1387delG

12 papers

NM_004655.4

p.R463C

c.1387C>T

1 paper

NM_004655.4

p.P467A

c.1399C>G

1 paper

NM_004655.4

p.P462_R463delins

c.1386_1387delinsTT

17 papers

NM_004655.4

p.P462P

c.1386C>T

1 paper

NM_004655.4

p.P467fs

c.1399_1400fs

1 paper

NM_004655.4

p.P467delFs

c.1400delG

1 paper

NM_004655.4

p.P462L

c.1385C>T