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.S570N

c.1709G>A

Surrounding Variants

1 paper

NM_003502.4

p.G572V

c.1715G>T

1 paper

NM_003502.4

p.E567G

c.1700A>G

1 paper

NM_003502.4

p.L566_E567insFs

c.1698_1699insC

1 paper

NM_003502.4

p.R574K

c.1721G>A

1 paper

NM_003502.4

p.S575F

c.1724C>T

1 paper

NM_003502.4

p.G565S

c.1693G>A

2 papers

NM_003502.4

p.W564*

c.1692G>A

1 paper

NM_003502.4

p.R576*

c.1726C>T

2 papers

NM_003502.4

p.W564*

c.1691G>A

1 paper

NM_003502.4

p.R576Q

c.1727G>A

1 paper

NM_003502.4

p.R576fs

c.1726_1727fs

1 paper

NM_003502.4

p.A563S

c.1687G>T