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

4 papers

NM_003502.4

p.R450H

c.1349G>A

Surrounding Variants

1 paper

NM_003502.4

p.R450L

c.1349G>T

1 paper

NM_003502.4

p.R450C

c.1348C>T

1 paper

NM_003502.4

p.V452_D453insFs

c.1356_1357ins4

1 paper

NM_003502.4

p.D453N

c.1357G>A

1 paper

NM_003502.4

p.D453G

c.1358A>G

1 paper

NM_003502.4

p.D453E

c.1359C>G

1 paper

NM_003502.4

p.D453E

c.1359C>A

1 paper

NM_003502.4

p.H446Q

c.1338C>G

1 paper

NM_003502.4

p.H446Q

c.1338C>A

2 papers

NM_003502.4

p.M454V

c.1360A>G

1 paper

NM_003502.4

p.H446R

c.1337A>G

2 papers

NM_003502.4

p.G455V

c.1364G>T