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.Y148fs

c.442_443fs

Surrounding Variants

1 paper

NM_003502.4

p.I149fs

c.445_446fs

1 paper

NM_003502.4

p.I149T

c.446T>C

1 paper

NM_003502.4

p.K147N

c.441G>T

1 paper

NM_003502.4

p.K147N

c.441G>C

1 paper

NM_003502.4

p.L150I

c.448C>A

4 papers

NM_003502.4

p.R146Q

c.437G>A

9 papers

NM_003502.4

p.R146*

c.436C>T

1 paper

NM_003502.4

p.Y145C

c.434A>G

2 papers

NM_003502.4

p.N152T

c.455A>C

1 paper

NM_003502.4

p.I144M

c.432C>G

1 paper

NM_003502.4

p.I144fs

c.430_431fs

1 paper

NM_003502.4

p.N153S

c.458A>G