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.V734F

c.2200G>T

Surrounding Variants

1 paper

NM_003502.4

p.E733Q

c.2197G>C

2 papers

NM_003502.4

p.R736W

c.2206C>T

2 papers

NM_003502.4

p.Q732*

c.2194C>T

1 paper

NM_003502.4

p.R737G

c.2209C>G

1 paper

NM_003502.4

p.Y730Y

c.2190T>C

1 paper

NM_003502.4

p.R737L

c.2210G>T

5 papers

NM_003502.4

p.R739C

c.2215C>T

11 papers

NM_003502.4

p.A740T

c.2218G>A

1 paper

NM_003502.4

p.V742V

c.2226C>G

1 paper

NM_003502.4

p.R739_R743del5

c.2215_2228del15

1 paper

NM_003502.4

p.A745V

c.2234C>T

1 paper

NM_003502.4

p.C746S

c.2236T>A