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.L471fs

c.1411_1412fs

Surrounding Variants

1 paper

NM_003502.4

p.D472N

c.1414G>A

1 paper

NM_003502.4

p.I470V

c.1408A>G

1 paper

NM_003502.4

p.D472G

c.1415A>G

1 paper

NM_003502.4

p.D472A

c.1415A>C

1 paper

NM_003502.4

p.S469N

c.1406G>A

1 paper

NM_003502.4

p.E473fs

c.1417_1418fs

1 paper

NM_003502.4

p.E473V

c.1418A>T

1 paper

NM_003502.4

p.E473G

c.1418A>G

1 paper

NM_003502.4

p.E473E

c.1419G>A

1 paper

NM_003502.4

p.E473delFs

c.1418delT

2 papers

NM_003502.4

p.H474Y

c.1420C>T

1 paper

NM_003502.4

p.V475I

c.1423G>A