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.V835delFs

c.2503delC

Surrounding Variants

1 paper

NM_003502.4

p.V835insFs

c.2503dupG

NM_181050.3

p.V799insFs

c.2395dupG

1 paper

NM_003502.4

p.V835fs

c.2503_2504fs

1 paper

NM_181050.3

p.V799fs

c.2395_2396fs

NM_003502.4

p.V835fs

c.2503_2504fs

3 papers

NM_003502.4

p.G834V

c.2501G>T

1 paper

NM_003502.4

p.G834E

c.2501G>A

1 paper

NM_003502.4

p.C833delFs

c.2499delA

1 paper

NM_181050.3

p.D796_C797delFs

c.2388_2389delAG

1 paper

NM_181050.3

p.D796E

c.2388C>G

1 paper

NM_181050.3

p.D796insFs

c.2387dupA

1 paper

NM_181050.3

p.D796E

c.2388C>A

1 paper

NM_181050.3

p.D796fs

c.2386_2387fs

1 paper

NM_003502.4

p.E830K

c.2488G>A