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.W247*

c.741G>A

Surrounding Variants

1 paper

NM_003502.4

p.W247fs

c.739_740fs

2 papers

NM_003502.4

p.W247*

c.740G>A

1 paper

NM_003502.4

p.K248*

c.742A>T

1 paper

NM_003502.4

p.W247_K248delFs

c.739_743del5

1 paper

NM_003502.4

p.E246D

c.738A>T

1 paper

NM_003502.4

p.E246D

c.738A>C

1 paper

NM_003502.4

p.C249F

c.746G>T

1 paper

NM_003502.4

p.Q251L

c.752A>T

1 paper

NM_003502.4

p.Q251H

c.753G>T

1 paper

NM_003502.4

p.Q251H

c.753G>C

3 papers

NM_003502.4

p.E243*

c.727G>T

1 paper

NM_003502.4

p.L241F

c.723A>T