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.V550E

c.1649T>A

Surrounding Variants

1 paper

NM_003502.4

p.Q549R

c.1646A>G

1 paper

NM_003502.4

p.Q549*

c.1645C>T

2 papers

NM_003502.4

p.E548G

c.1643A>G

1 paper

NM_003502.4

p.E548K

c.1642G>A

1 paper

NM_003502.4

p.K547fs

c.1639_1640fs

1 paper

NM_003502.4

p.T555fs

c.1663_1664fs

1 paper

NM_003502.4

p.R545Q

c.1634G>A

1 paper

NM_003502.4

p.R545W

c.1633C>T

2 papers

NM_003502.4

p.R556S

c.1666C>A

1 paper

NM_003502.4

p.R556H

c.1667G>A

1 paper

NM_003502.4

p.R557G

c.1669A>G

1 paper

NM_003502.4

p.R557K

c.1670G>A