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.R142*

c.424A>T

Surrounding Variants

1 paper

NM_003502.4

p.R142insFs

c.425dupG

1 paper

NM_003502.4

p.R142_A143ins2

c.426_427ins6

1 paper

NM_003502.4

p.R142fs

c.424_425fs

1 paper

NM_003502.4

p.A141T

c.421G>A

1 paper

NM_003502.4

p.A143D

c.428C>A

1 paper

NM_003502.4

p.K139N

c.417G>C

1 paper

NM_003502.4

p.I144M

c.432C>G

1 paper

NM_003502.4

p.I144fs

c.430_431fs

1 paper

NM_003502.4

p.Y145C

c.434A>G

9 papers

NM_003502.4

p.R146*

c.436C>T

4 papers

NM_003502.4

p.R146Q

c.437G>A

1 paper

NM_003502.4

p.R137K

c.410G>A