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.P264delFs

c.792delG

Surrounding Variants

3 papers

NM_003502.4

p.G265*

c.793G>T

4 papers

NM_003502.4

p.P264insFs

c.792dupC

1 paper

NM_003502.4

p.G265fs

c.793_794fs

1 paper

NM_003502.4

p.P264L

c.791C>T

4 papers

NM_003502.4

p.G265fs

c.793_794fs

3 papers

NM_003502.4

p.P263T

c.787C>A

3 papers

NM_003502.4

p.L267R

c.800T>G

1 paper

NM_003502.4

p.P268S

c.802C>T

1 paper

NM_003502.4

p.Q269E

c.805C>G

1 paper

NM_003502.4

p.Q269H

c.807G>T

1 paper

NM_003502.4

p.Q269H

c.807G>C

1 paper

NM_003502.4

p.G258D

c.773G>A