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.E411D

c.1233G>C

Surrounding Variants

1 paper

NM_003502.4

p.E411D

c.1233G>T

1 paper

NM_003502.4

p.R412fs

c.1234_1235fs

1 paper

NM_003502.4

p.R412W

c.1234C>T

1 paper

NM_003502.4

p.E411G

c.1232A>G

4 papers

NM_003502.4

p.R412Q

c.1235G>A

1 paper

NM_003502.4

p.L413R

c.1238T>G

2 papers

NM_003502.4

p.R415C

c.1243C>T

4 papers

NM_003502.4

p.R415H

c.1244G>A

2 papers

NM_003502.4

p.V416M

c.1246G>A

1 paper

NM_003502.4

p.E407*

c.1219G>T

4 papers

NM_003502.4

p.E406*

c.1216G>T

4 papers

NM_003502.4

p.R417H

c.1250G>A