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.A585D

c.1754C>A

Surrounding Variants

4 papers

NM_003502.4

p.A584T

c.1750G>A

2 papers

NM_003502.4

p.N587fs

c.1759_1760fs

2 papers

NM_003502.4

p.P586delFs

c.1758delG

1 paper

NM_003502.4

p.N587I

c.1760A>T

1 paper

NM_003502.4

p.G583C

c.1747G>T

2 papers

NM_003502.4

p.G583S

c.1747G>A

1 paper

NM_003502.4

p.A588T

c.1762G>A

1 paper

NM_003502.4

p.E580_S581delFs

c.1739_1742del4

1 paper

NM_003502.4

p.S581fs

c.1741_1742fs

1 paper

NM_003502.4

p.S579*

c.1736C>G

1 paper

NM_003502.4

p.S579*

c.1736C>A

3 papers

NM_003502.4

p.Y578*

c.1734C>G