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.R841fs

c.2521_2522fs

Surrounding Variants

3 papers

NM_003502.4

p.R841*

c.2521C>T

NM_181050.3

p.R805*

c.2413C>T

10 papers

NM_003502.4

p.R841Q

c.2522G>A

1 paper

NM_003502.4

p.E842G

c.2525A>G

1 paper

NM_003502.4

p.E842D

c.2526G>T

1 paper

NM_003502.4

p.E842D

c.2526G>C

1 paper

NM_003502.4

p.D843N

c.2527G>A

1 paper

NM_003502.4

p.D843E

c.2529C>G

1 paper

NM_003502.4

p.D843E

c.2529C>A

2 papers

NM_003502.4

p.A845V

c.2534C>T

1 paper

NM_003502.4

p.V846A

c.2537T>C

1 paper

NM_003502.4

p.V835fs

c.2503_2504fs

1 paper

NM_003502.4

p.V835insFs

c.2503dupG

NM_181050.3

p.V799insFs

c.2395dupG