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

2 papers

NM_003502.4

p.V756M

c.2266G>A

Surrounding Variants

1 paper

NM_003502.4

p.V753A

c.2258T>C

1 paper

NM_003502.4

p.M759T

c.2276T>C

1 paper

NM_003502.4

p.V752A

c.2255T>C

1 paper

NM_003502.4

p.E760K

c.2278G>A

1 paper

NM_003502.4

p.V752M

c.2254G>A

1 paper

NM_003502.4

p.H751Q

c.2253C>G

1 paper

NM_003502.4

p.H751Q

c.2253C>A

1 paper

NM_003502.4

p.E760D

c.2280G>T

1 paper

NM_003502.4

p.E760D

c.2280G>C

1 paper

NM_003502.4

p.P748P

c.2244G>C

1 paper

NM_003502.4

p.E763E

c.2289G>A

4 papers

NM_003502.4

p.P748L

c.2243C>T