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.H662Y

c.1984C>T

Surrounding Variants

1 paper

NM_003502.4

p.H662fs

c.1984_1985fs

1 paper

NM_003502.4

p.P661P

c.1983C>T

1 paper

NM_003502.4

p.H662R

c.1985A>G

2 papers

NM_003502.4

p.P661L

c.1982C>T

1 paper

NM_003502.4

p.E663K

c.1987G>A

1 paper

NM_003502.4

p.P661S

c.1981C>T

1 paper

NM_003502.4

p.S665A

c.1993T>G

2 papers

NM_003502.4

p.P659S

c.1975C>T

1 paper

NM_003502.4

p.S665fs

c.1993_1994fs

2 papers

NM_003502.4

p.R666fs

c.1996_1997fs

1 paper

NM_003502.4

p.R666K

c.1997G>A

2 papers

NM_003502.4

p.T656T

c.1968G>A