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.R713R

c.2139T>G

Surrounding Variants

1 paper

NM_003502.4

p.R713C

c.2137C>T

4 papers

NM_003502.4

p.R712Q

c.2135G>A

5 papers

NM_003502.4

p.R712*

c.2134C>T

1 paper

NM_003502.4

p.R711H

c.2132G>A

2 papers

NM_003502.4

p.R711C

c.2131C>T

2 papers

NM_003502.4

p.A710V

c.2129C>T

1 paper

NM_003502.4

p.K719E

c.2155A>G

1 paper

NM_003502.4

p.L707P

c.2120T>C

1 paper

NM_003502.4

p.R720fs

c.2158_2159fs

1 paper

NM_003502.4

p.Q706delFs

c.2118delC

2 papers

NM_003502.4

p.Q706P

c.2117A>C

1 paper

NM_003502.4

p.Q706fs

c.2116_2117fs