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

2 papers

NM_003502.4

p.S828S

c.2484C>T

Surrounding Variants

1 paper

NM_003502.4

p.D829Y

c.2485G>T

1 paper

NM_003502.4

p.D829G

c.2486A>G

1 paper

NM_003502.4

p.S828G

c.2482A>G

1 paper

NM_003502.4

p.V827A

c.2480T>C

1 paper

NM_003502.4

p.E830K

c.2488G>A

1 paper

NM_181050.3

p.D796fs

c.2386_2387fs

1 paper

NM_003502.4

p.K825Q

c.2473A>C

1 paper

NM_181050.3

p.D796E

c.2388C>G

1 paper

NM_003502.4

p.F824L

c.2472C>G

1 paper

NM_181050.3

p.D796insFs

c.2387dupA

1 paper

NM_181050.3

p.D796E

c.2388C>A

1 paper

NM_003502.4

p.F824L

c.2472C>A