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.R821S

c.2463A>T

Surrounding Variants

1 paper

NM_003502.4

p.R821S

c.2463A>C

1 paper

NM_003502.4

p.Y822H

c.2464T>C

1 paper

NM_003502.4

p.R821Splc

c.2463-1G>T

1 paper

NM_003502.4

p.R821Splc

c.2463-2A>G

1 paper

NM_003502.4

p.Y823D

c.2467T>G

1 paper

NM_003502.4

p.Y823H

c.2467T>C

1 paper

NM_003502.4

p.F824L

c.2470T>C

1 paper

NM_003502.4

p.F824Y

c.2471T>A

1 paper

NM_003502.4

p.F824L

c.2472C>G

1 paper

NM_003502.4

p.F824L

c.2472C>A

1 paper

NM_003502.4

p.K825Q

c.2473A>C

1 paper

NM_003502.4

p.V827A

c.2480T>C