Varaico: Literature-Extracted Genetic Variants

UHRF1

96 papers

RefSeq Summary

This gene encodes a member of a subfamily of RING-finger type E3 ubiquitin ligases. The protein binds to specific DNA sequences, and recruits a histone deacetylase to regulate gene expression. Its exp...

Pfam Domains

ubiquitinaa 3–76UCSCUbiquitin family

TTDaa 132–284UCSCTandem tudor domain within UHRF1

PHDaa 318–363UCSCPHD-finger

SAD_SRAaa 417–586UCSCSAD/SRA domain

Gene Aliases

HGNC Name

ubiquitin like with PHD and ring finger domains 1

HGNC Alias Symbols

ICBP90; Np95; FLJ21925; RNF106; TDRD22

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001048201.3

p.G448D

c.1343G>A

Surrounding Variants

1 paper

NM_001048201.3

p.I449I

c.1347A>C

1 paper

NM_001048201.3

p.E438D

c.1314G>C

1 paper

NM_001048201.3

p.G464V

c.1391G>T

1 paper

NM_001048201.3

p.D469Y

c.1405G>T

1 paper

NM_001048201.3

p.D469A

c.1406A>C

2 papers

NM_001048201.3

p.D469G

c.1406A>G

1 paper

NM_001048201.3

p.D469D

c.1407T>C

1 paper

NM_013282.5

p.G493_S494delFs

c.1479_1480delTA

1 paper

NM_001048201.3

p.G483D

c.1448G>A

1 paper

NM_001048201.3

p.R406H

c.1217G>A

1 paper

NM_001048201.3

p.S392A

c.1174T>G

1 paper

NM_001048201.3

p.A389A

c.1167C>T