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.F388F

c.1164C>T

Surrounding Variants

1 paper

NM_003502.4

p.F388S

c.1163T>C

1 paper

NM_003502.4

p.A389V

c.1166C>T

1 paper

NM_003502.4

p.Q386H

c.1158G>T

1 paper

NM_003502.4

p.Q386H

c.1158G>C

1 paper

NM_003502.4

p.E391*

c.1171G>T

1 paper

NM_003502.4

p.E391K

c.1171G>A

2 papers

NM_003502.4

p.Q386*

c.1156C>T

1 paper

NM_003502.4

p.P385fs

c.1153_1154fs

1 paper

NM_003502.4

p.L392V

c.1174C>G

2 papers

NM_003502.4

p.L392P

c.1175T>C

1 paper

NM_003502.4

p.P385S

c.1153C>T

2 papers

NM_003502.4

p.P385A

c.1153C>G