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.E421K

c.1261G>A

Surrounding Variants

1 paper

NM_003502.4

p.E420G

c.1259A>G

2 papers

NM_003502.4

p.G422D

c.1265G>A

1 paper

NM_003502.4

p.E419G

c.1256A>G

1 paper

NM_003502.4

p.E423insFs

c.1267_1268insC

2 papers

NM_003502.4

p.M418_E419Splc

c.1255-2A>T

6 papers

NM_003502.4

p.G425S

c.1273G>A

1 paper

NM_003502.4

p.D426_P427ins6

c.1276_1280ins18

1 paper

NM_003502.4

p.D424_G425delFs

c.1272_1275del4

2 papers

NM_003502.4

p.S428L

c.1283C>T

1 paper

NM_003502.4

p.S428*

c.1283C>A

4 papers

NM_003502.4

p.S428S

c.1284G>A

2 papers

NM_003502.4

p.P431S

c.1291C>T