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.E135G

c.404A>G

Surrounding Variants

1 paper

NM_003502.4

p.K136*

c.406A>T

1 paper

NM_003502.4

p.E135del1

c.403_404delCTC

2 papers

NM_003502.4

p.E134K

c.400G>A

1 paper

NM_003502.4

p.R137K

c.410G>A

2 papers

NM_003502.4

p.N133S

c.398A>G

1 paper

NM_003502.4

p.F119_N133delFs

c.357_397del41

1 paper

NM_003502.4

p.S132W

c.395C>G

1 paper

NM_003502.4

p.K139N

c.417G>C

1 paper

NM_003502.4

p.D131N

c.391G>A

1 paper

NM_003502.4

p.A141T

c.421G>A

1 paper

NM_003502.4

p.P129S

c.385C>T

1 paper

NM_003502.4

p.R142*

c.424A>T