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.E406K

c.1216G>A

Surrounding Variants

4 papers

NM_003502.4

p.E406*

c.1216G>T

1 paper

NM_003502.4

p.E407*

c.1219G>T

1 paper

NM_003502.4

p.E404*

c.1210G>T

1 paper

NM_003502.4

p.E404K

c.1210G>A

3 papers

NM_003502.4

p.R403Q

c.1208G>A

2 papers

NM_003502.4

p.R403W

c.1207C>T

1 paper

NM_003502.4

p.I393_T402delFs

c.1177_1205del29

4 papers

NM_003502.4

p.T402M

c.1205C>T

1 paper

NM_003502.4

p.T402K

c.1205C>A

4 papers

NM_003502.4

p.R401H

c.1202G>A

2 papers

NM_003502.4

p.R401C

c.1201C>T

1 paper

NM_003502.4

p.E411G

c.1232A>G