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.S166I

c.497G>T

Surrounding Variants

1 paper

NM_003502.4

p.S166R

c.498C>G

1 paper

NM_003502.4

p.S166R

c.498C>A

1 paper

NM_003502.4

p.S166R

c.496A>C

1 paper

NM_003502.4

p.K165R

c.494A>G

1 paper

NM_003502.4

p.I168V

c.502A>G

1 paper

NM_003502.4

p.K161_T164ins1

c.482_490dup9

1 paper

NM_003502.4

p.T164A

c.490A>G

1 paper

NM_003502.4

p.G170V

c.509G>T

1 paper

NM_003502.4

p.G170D

c.509G>A

1 paper

NM_003502.4

p.P162Q

c.485C>A

1 paper

NM_003502.4

p.K161N

c.483G>T

1 paper

NM_003502.4

p.K161N

c.483G>C