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

5 papers

NM_003502.4

p.R395C

c.1183C>T

Surrounding Variants

1 paper

NM_003502.4

p.R395fs

c.1183_1184fs

3 papers

NM_003502.4

p.R395P

c.1184G>C

2 papers

NM_003502.4

p.R395H

c.1184G>A

1 paper

NM_003502.4

p.H394R

c.1181A>G

7 papers

NM_003502.4

p.L396M

c.1186C>A

3 papers

NM_003502.4

p.H394N

c.1180C>A

1 paper

NM_003502.4

p.I393M

c.1179C>G

1 paper

NM_003502.4

p.I393fs

c.1177_1178fs

1 paper

NM_003502.4

p.E397*

c.1189G>T

1 paper

NM_003502.4

p.L392L

c.1176C>A

1 paper

NM_003502.4

p.E397G

c.1190A>G

2 papers

NM_003502.4

p.L392P

c.1175T>C