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

10 papers

NM_003502.4

p.G650S

c.1948G>A

Surrounding Variants

1 paper

NM_003502.4

p.G650C

c.1948G>T

1 paper

NM_003502.4

p.T649P

c.1945A>C

2 papers

NM_003502.4

p.R647H

c.1940G>A

1 paper

NM_003502.4

p.R647C

c.1939C>T

1 paper

NM_003502.4

p.R647fs

c.1939_1940fs

1 paper

NM_003502.4

p.H646Y

c.1936C>T

1 paper

NM_003502.4

p.S644G

c.1930A>G

1 paper

NM_003502.4

p.I643V

c.1927A>G

1 paper

NM_003502.4

p.E642G

c.1925A>G

1 paper

NM_003502.4

p.E642Q

c.1924G>C

1 paper

NM_003502.4

p.E642fs

c.1924_1925fs

1 paper

NM_003502.4

p.K641fs

c.1921_1922fs