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.T694P

c.2080A>C

Surrounding Variants

1 paper

NM_003502.4

p.P693S

c.2077C>T

1 paper

NM_003502.4

p.P693A

c.2077C>G

1 paper

NM_003502.4

p.D692N

c.2074G>A

2 papers

NM_003502.4

p.P696S

c.2086C>T

1 paper

NM_003502.4

p.Q691*

c.2071C>T

1 paper

NM_003502.4

p.P697T

c.2089C>A

1 paper

NM_003502.4

p.P697R

c.2090C>G

1 paper

NM_003502.4

p.I690T

c.2069T>C

2 papers

NM_003502.4

p.I690V

c.2068A>G

3 papers

NM_003502.4

p.H698P

c.2093A>C

1 paper

NM_003502.4

p.F689S

c.2066T>C

1 paper

NM_003502.4

p.H687Q

c.2061C>G