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.P482H

c.1445C>A

Surrounding Variants

4 papers

NM_003502.4

p.R484C

c.1450C>T

1 paper

NM_003502.4

p.R484H

c.1451G>A

1 paper

NM_003502.4

p.V478G

c.1433T>G

1 paper

NM_003502.4

p.S486S

c.1458G>A

1 paper

NM_003502.4

p.P487S

c.1459C>T

1 paper

NM_003502.4

p.R477C

c.1429C>T

1 paper

NM_003502.4

p.G488V

c.1463G>T

1 paper

NM_003502.4

p.Q476K

c.1426C>A

2 papers

NM_003502.4

p.V475A

c.1424T>C

1 paper

NM_003502.4

p.V475I

c.1423G>A

2 papers

NM_003502.4

p.H474Y

c.1420C>T

1 paper

NM_003502.4

p.E473E

c.1419G>A