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.R576Q

c.1727G>A

Surrounding Variants

1 paper

NM_003502.4

p.R576*

c.1726C>T

1 paper

NM_003502.4

p.R576fs

c.1726_1727fs

1 paper

NM_003502.4

p.S575F

c.1724C>T

1 paper

NM_003502.4

p.R574K

c.1721G>A

3 papers

NM_003502.4

p.Y578*

c.1734C>G

3 papers

NM_003502.4

p.Y578*

c.1734C>A

1 paper

NM_003502.4

p.S579*

c.1736C>G

1 paper

NM_003502.4

p.S579*

c.1736C>A

1 paper

NM_003502.4

p.G572V

c.1715G>T

1 paper

NM_003502.4

p.S581fs

c.1741_1742fs

1 paper

NM_003502.4

p.E580_S581delFs

c.1739_1742del4

2 papers

NM_003502.4

p.S570N

c.1709G>A