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

11 papers

NM_003502.4

p.D495E

c.1485C>A

Surrounding Variants

11 papers

NM_003502.4

p.D495E

c.1485C>G

1 paper

NM_003502.4

p.P494L

c.1481C>T

1 paper

NM_003502.4

p.P494Q

c.1481C>A

1 paper

NM_003502.4

p.P494fs

c.1480_1481fs

1 paper

NM_003502.4

p.S493F

c.1478C>T

1 paper

NM_003502.4

p.R492L

c.1475G>T

2 papers

NM_003502.4

p.R492H

c.1475G>A

1 paper

NM_003502.4

p.R492C

c.1474C>T

1 paper

NM_003502.4

p.M502V

c.1504A>G

1 paper

NM_003502.4

p.M502I

c.1506G>T

1 paper

NM_003502.4

p.M502I

c.1506G>C

1 paper

NM_003502.4

p.M502I

c.1506G>A