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.H90fs

c.268_269fs

Surrounding Variants

1 paper

NM_003502.4

p.H90delFs

c.269delT

1 paper

NM_003502.4

p.S91P

c.271T>C

2 papers

NM_003502.4

p.S91F

c.272C>T

1 paper

NM_003502.4

p.H90Y

c.268C>T

1 paper

NM_003502.4

p.H90N

c.268C>A

1 paper

NM_003502.4

p.S91delins

c.272_273delinsTT

1 paper

NM_003502.4

p.L92P

c.275T>C

1 paper

NM_003502.4

p.S88*

c.263C>G

1 paper

NM_003502.4

p.L93M

c.277C>A

1 paper

NM_003502.4

p.S88*

c.263C>A

1 paper

NM_003502.4

p.S88P

c.262T>C

1 paper

NM_003502.4

p.D94N

c.280G>A