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.Q684*

c.2050C>T

Surrounding Variants

1 paper

NM_003502.4

p.Q684L

c.2051A>T

1 paper

NM_003502.4

p.Q684H

c.2052G>T

1 paper

NM_003502.4

p.Q684H

c.2052G>C

1 paper

NM_003502.4

p.V683L

c.2047G>T

1 paper

NM_003502.4

p.V683L

c.2047G>C

3 papers

NM_003502.4

p.V683M

c.2047G>A

1 paper

NM_003502.4

p.P685S

c.2053C>T

1 paper

NM_003502.4

p.S686F

c.2057C>T

1 paper

NM_003502.4

p.R680_T681insFs

c.2038_2041dup4

1 paper

NM_003502.4

p.G676_R680delFs

c.2028_2040del13

1 paper

NM_003502.4

p.H687L

c.2060A>T

1 paper

NM_003502.4

p.H687Q

c.2061C>G