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.K84E

c.250A>G

Surrounding Variants

1 paper

NM_003502.4

p.K84R

c.251A>G

1 paper

NM_003502.4

p.W85L

c.254G>T

1 paper

NM_003502.4

p.W85*

c.254G>A

1 paper

NM_003502.4

p.W85C

c.255G>T

1 paper

NM_003502.4

p.W85C

c.255G>C

1 paper

NM_003502.4

p.W85*

c.255G>A

1 paper

NM_003502.4

p.P81fs

c.241_242fs

1 paper

NM_003502.4

p.P81delFs

c.242delG

1 paper

NM_003502.4

p.P81R

c.242C>G

1 paper

NM_003502.4

p.E87*

c.259G>T

1 paper

NM_003502.4

p.E87K

c.259G>A

1 paper

NM_003502.4

p.E87G

c.260A>G