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.E464D

c.1392G>C

Surrounding Variants

1 paper

NM_003502.4

p.E464D

c.1392G>T

2 papers

NM_003502.4

p.E465*

c.1393G>T

2 papers

NM_003502.4

p.E464*

c.1390G>T

1 paper

NM_003502.4

p.N466Y

c.1396A>T

1 paper

NM_003502.4

p.H463D

c.1387C>G

1 paper

NM_003502.4

p.A462T

c.1384G>A

1 paper

NM_003502.4

p.D461N

c.1381G>A

1 paper

NM_003502.4

p.S469N

c.1406G>A

2 papers

NM_003502.4

p.R460W

c.1378C>T

1 paper

NM_003502.4

p.I470V

c.1408A>G

2 papers

NM_003502.4

p.L459F

c.1375C>T

1 paper

NM_003502.4

p.L471fs

c.1411_1412fs