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.K219_C221delFs

c.657_661del5

Surrounding Variants

1 paper

NM_003502.4

p.K219*

c.655A>T

1 paper

NM_003502.4

p.P218delins

c.653_654delinsTT

1 paper

NM_003502.4

p.P218L

c.653C>T

1 paper

NM_003502.4

p.Q224H

c.672G>T

1 paper

NM_003502.4

p.Q224H

c.672G>C

1 paper

NM_003502.4

p.P218S

c.652C>T

1 paper

NM_003502.4

p.S225fs

c.673_674fs

1 paper

NM_003502.4

p.S217T

c.650G>C

3 papers

NM_003502.4

p.S226F

c.677C>T

3 papers

NM_003502.4

p.S226C

c.677C>G

9 papers

NM_003502.4

p.S215L

c.644C>T

1 paper

NM_003502.4

p.S228L

c.683C>T