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.A76T

c.226G>A

Surrounding Variants

1 paper

NM_003502.4

p.A76V

c.227C>T

1 paper

NM_003502.4

p.S75N

c.224G>A

1 paper

NM_003502.4

p.A76A

c.228C>T

1 paper

NM_003502.4

p.A76A

c.228C>A

1 paper

NM_003502.4

p.S77A

c.229T>G

2 papers

NM_003502.4

p.S77P

c.229T>C

2 papers

NM_003502.4

p.S75G

c.223A>G

2 papers

NM_003502.4

p.S77F

c.230C>T

1 paper

NM_003502.4

p.G74S

c.220G>A

2 papers

NM_003502.4

p.P78S

c.232C>T

1 paper

NM_003502.4

p.E73D

c.219G>T

1 paper

NM_003502.4

p.E73D

c.219G>C