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.K107R

c.320A>G

Surrounding Variants

1 paper

NM_003502.4

p.K107delins

c.320_321delinsTA

1 paper

NM_003502.4

p.K107*

c.319A>T

5 papers

NM_003502.4

p.L106R

c.317T>G

1 paper

NM_003502.4

p.L106P

c.317T>C

1 paper

NM_003502.4

p.Q108H

c.324G>T

1 paper

NM_003502.4

p.Q108H

c.324G>C

2 papers

NM_003502.4

p.F105L

c.315C>G

1 paper

NM_003502.4

p.F105fs

c.313_314fs

2 papers

NM_003502.4

p.F105L

c.315C>A

1 paper

NM_003502.4

p.F105S

c.314T>C

1 paper

NM_003502.4

p.E109delFs

c.325delC

2 papers

NM_003502.4

p.F105L

c.313T>C