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.A443fs

c.1327_1328fs

Surrounding Variants

1 paper

NM_003502.4

p.A443S

c.1327G>T

1 paper

NM_003502.4

p.P442_A443insFs

c.1326_1327insC

1 paper

NM_003502.4

p.P442delFs

c.1326delG

1 paper

NM_003502.4

p.A443V

c.1328C>T

1 paper

NM_003502.4

p.A443fs

c.1327_1328fs

2 papers

NM_003502.4

p.W444*

c.1331G>A

2 papers

NM_003502.4

p.W444*

c.1332G>A

1 paper

NM_003502.4

p.H445Y

c.1333C>T

1 paper

NM_003502.4

p.P440S

c.1318C>T

1 paper

NM_003502.4

p.H446R

c.1337A>G

1 paper

NM_003502.4

p.H446Q

c.1338C>G

1 paper

NM_003502.4

p.H446Q

c.1338C>A