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

2 papers

NM_003502.4

p.G458R

c.1372G>A

Surrounding Variants

1 paper

NM_003502.4

p.G458R

c.1372G>C

1 paper

NM_003502.4

p.A457A

c.1371C>T

2 papers

NM_003502.4

p.A457P

c.1369G>C

2 papers

NM_003502.4

p.L459F

c.1375C>T

2 papers

NM_003502.4

p.R460W

c.1378C>T

2 papers

NM_003502.4

p.G455V

c.1364G>T

1 paper

NM_003502.4

p.D461N

c.1381G>A

1 paper

NM_003502.4

p.A462T

c.1384G>A

2 papers

NM_003502.4

p.M454V

c.1360A>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.D453G

c.1358A>G