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

1 paper

NM_003502.4

p.G507V

c.1520G>T

Surrounding Variants

1 paper

NM_003502.4

p.G507W

c.1519G>T

3 papers

NM_003502.4

p.G508fs

c.1522_1523fs

7 papers

NM_003502.4

p.G508fs

c.1522_1523fs

4 papers

NM_003502.4

p.G508delFs

c.1523delC

1 paper

NM_003502.4

p.L506fs

c.1516_1517fs

1 paper

NM_003502.4

p.A509T

c.1525G>A

1 paper

NM_003502.4

p.A510T

c.1528G>A

1 paper

NM_003502.4

p.S511A

c.1531T>G

6 papers

NM_003502.4

p.S511L

c.1532C>T

1 paper

NM_003502.4

p.P503L

c.1508C>T

1 paper

NM_003502.4

p.G512W

c.1534G>T

1 paper

NM_003502.4

p.M502I

c.1506G>T