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.A20A

c.60T>A

Surrounding Variants

2 papers

NM_003502.4

p.P21S

c.61C>T

1 paper

NM_003502.4

p.P21T

c.61C>A

1 paper

NM_003502.4

p.P21L

c.62C>T

7 papers

NM_003502.4

p.R22*

c.64C>T

1 paper

NM_003502.4

p.R22fs

c.64_65fs

1 paper

NM_003502.4

p.D19Y

c.55G>T

5 papers

NM_003502.4

p.R22Q

c.65G>A

1 paper

NM_003502.4

p.R22delFs

c.64delG

1 paper

NM_003502.4

p.E18V

c.53A>T

1 paper

NM_003502.4

p.P24S

c.70C>T

1 paper

NM_003502.4

p.T17N

c.50C>A

1 paper

NM_003502.4

p.V25fs

c.73_74fs