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.S616delFs

c.1848delG

Surrounding Variants

2 papers

NM_003502.4

p.E618K

c.1852G>A

1 paper

NM_003502.4

p.S616fs

c.1846_1847fs

4 papers

NM_003502.4

p.A615T

c.1843G>A

1 paper

NM_003502.4

p.S614R

c.1842C>G

1 paper

NM_003502.4

p.S614R

c.1842C>A

1 paper

NM_003502.4

p.S614G

c.1840A>G

1 paper

NM_003502.4

p.S614R

c.1840A>C

1 paper

NM_003502.4

p.K613R

c.1838A>G

1 paper

NM_003502.4

p.G621R

c.1861G>C

1 paper

NM_003502.4

p.G621D

c.1862G>A

1 paper

NM_003502.4

p.G612E

c.1835G>A

1 paper

NM_003502.4

p.S611A

c.1831T>G