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.Y42C

c.125A>G

Surrounding Variants

1 paper

NM_003502.4

p.A40_S41delins

c.120_122delinsAGC

1 paper

NM_003502.4

p.S41G

c.121A>G

4 papers

NM_003502.4

p.A40T

c.118G>A

1 paper

NM_003502.4

p.F44delFs

c.131delA

1 paper

NM_003502.4

p.C45R

c.133T>C

2 papers

NM_003502.4

p.C45C

c.135C>T

1 paper

NM_003502.4

p.S46F

c.137C>T

1 paper

NM_003502.4

p.R38W

c.112A>T

1 paper

NM_003502.4

p.P37L

c.110C>T

1 paper

NM_003502.4

p.D36A

c.107A>C

1 paper

NM_003502.4

p.G49D

c.146G>A

1 paper

NM_003502.4

p.T35S

c.103A>T