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

5 papers

NM_003502.4

p.L101P

c.302T>C

Surrounding Variants

1 paper

NM_003502.4

p.L101Q

c.302T>A

1 paper

NM_003502.4

p.F102L

c.304T>C

1 paper

NM_003502.4

p.F102S

c.305T>C

3 papers

NM_003502.4

p.S100N

c.299G>A

1 paper

NM_003502.4

p.F102L

c.306C>G

1 paper

NM_003502.4

p.F102L

c.306C>A

1 paper

NM_003502.4

p.I99M

c.297A>G

4 papers

NM_003502.4

p.R103M

c.308G>T

2 papers

NM_003502.4

p.I99V

c.295A>G

1 paper

NM_003502.4

p.G98E

c.293G>A

1 paper

NM_003502.4

p.T104N

c.311C>A

1 paper

NM_003502.4

p.G98R

c.292G>C