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.P80fs

c.238_239fs

Surrounding Variants

1 paper

NM_003502.4

p.P80T

c.238C>A

1 paper

NM_003502.4

p.T79delins

c.236_237delinsTT

1 paper

NM_003502.4

p.T79I

c.236C>T

1 paper

NM_003502.4

p.T79fs

c.235_236fs

1 paper

NM_003502.4

p.P78delFs

c.234delG

1 paper

NM_003502.4

p.P81R

c.242C>G

1 paper

NM_003502.4

p.P78L

c.233C>T

1 paper

NM_003502.4

p.P81fs

c.241_242fs

1 paper

NM_003502.4

p.P81delFs

c.242delG

2 papers

NM_003502.4

p.P78S

c.232C>T

2 papers

NM_003502.4

p.S77F

c.230C>T

1 paper

NM_003502.4

p.S77A

c.229T>G