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.T122I

c.365C>T

Surrounding Variants

1 paper

NM_003502.4

p.T122S

c.365C>G

1 paper

NM_003502.4

p.T122S

c.364A>T

3 papers

NM_003502.4

p.T122A

c.364A>G

2 papers

NM_003502.4

p.C121F

c.362G>T

1 paper

NM_003502.4

p.C121S

c.362G>C

1 paper

NM_003502.4

p.C121S

c.361T>A

2 papers

NM_003502.4

p.A120D

c.359C>A

1 paper

NM_003502.4

p.A120T

c.358G>A

1 paper

NM_003502.4

p.R125W

c.373A>T

1 paper

NM_003502.4

p.W118R

c.352T>C

1 paper

NM_003502.4

p.W118R

c.352T>A

1 paper

NM_003502.4

p.P129S

c.385C>T