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

2 papers

NM_003502.4

p.R533*

c.1597C>T

Surrounding Variants

2 papers

NM_003502.4

p.R533Q

c.1598G>A

1 paper

NM_003502.4

p.H534Q

c.1602C>G

2 papers

NM_003502.4

p.H534ins4

c.1601_1602ins12

1 paper

NM_003502.4

p.H534Q

c.1602C>A

5 papers

NM_003502.4

p.V535I

c.1603G>A

1 paper

NM_003502.4

p.H536Q

c.1608C>G

1 paper

NM_003502.4

p.H536Q

c.1608C>A

1 paper

NM_003502.4

p.G528S

c.1582G>A

1 paper

NM_003502.4

p.H538D

c.1612C>G

1 paper

NM_003502.4

p.V539I

c.1615G>A

6 papers

NM_003502.4

p.A526V

c.1577C>T

1 paper

NM_003502.4

p.A526T

c.1576G>A