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.M193I

c.579G>C

Surrounding Variants

1 paper

NM_003502.4

p.M193I

c.579G>T

1 paper

NM_003502.4

p.M193I

c.579G>A

2 papers

NM_003502.4

p.M193K

c.578T>A

1 paper

NM_003502.4

p.E195*

c.583G>T

1 paper

NM_003502.4

p.E195Q

c.583G>C

2 papers

NM_003502.4

p.E195K

c.583G>A

1 paper

NM_003502.4

p.T192S

c.575C>G

4 papers

NM_003502.4

p.E195V

c.584A>T

1 paper

NM_003502.4

p.T192S

c.574A>T

1 paper

NM_003502.4

p.Q184_A191del8

c.550_572del24

1 paper

NM_003502.4

p.N196D

c.586A>G

2 papers

NM_003502.4

p.A191T

c.571G>A