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.V280V

c.840C>T

Surrounding Variants

1 paper

NM_003502.4

p.V280I

c.838G>A

2 papers

NM_003502.4

p.S282T

c.844T>A

1 paper

NM_003502.4

p.R279M

c.836G>T

1 paper

NM_003502.4

p.S282F

c.845C>T

7 papers

NM_003502.4

p.P278L

c.833C>T

1 paper

NM_003502.4

p.R284insFs

c.850_851insCG

1 paper

NM_003502.4

p.R284fs

c.850_851fs

1 paper

NM_003502.4

p.A276delFs

c.826delC

1 paper

NM_003502.4

p.R285L

c.854G>T

1 paper

NM_003502.4

p.Y286H

c.856T>C

1 paper

NM_003502.4

p.T275S

c.823A>T

1 paper

NM_003502.4

p.E274Q

c.820G>C