Varaico: Literature-Extracted Genetic Variants

AXIN1

546 papers

RefSeq Summary

This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polypos...

Pfam Domains

AXIN1_TNKS_BDaa 7–82UCSCAxin-1 tankyrase binding domain

RGSaa 88–210UCSCRegulator of G protein signaling domain

Axin_b-cat_bindaa 465–496UCSCAxin beta-catenin binding motif

DIXaa 782–858UCSCDIX domain

Gene Aliases

HGNC Name

axin 1

HGNC Alias Symbol

PPP1R49

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_003502.4

p.A522V

c.1565C>T

Surrounding Variants

1 paper

NM_003502.4

p.A522fs

c.1564_1565fs

2 papers

NM_003502.4

p.A522fs

c.1564_1565fs

1 paper

NM_003502.4

p.G521V

c.1562G>T

2 papers

NM_003502.4

p.G521E

c.1562G>A

1 paper

NM_003502.4

p.S520_G521delFs

c.1560_1561delCT

1 paper

NM_003502.4

p.A526T

c.1576G>A

6 papers

NM_003502.4

p.A526V

c.1577C>T

3 papers

NM_003502.4

p.V517I

c.1549G>A

1 paper

NM_003502.4

p.G528S

c.1582G>A

1 paper

NM_003502.4

p.H516fs

c.1546_1547fs

1 paper

NM_003502.4

p.H516R

c.1547A>G

1 paper

NM_003502.4

p.H516fs

c.1546_1547fs