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.E335A

c.1004A>C

Surrounding Variants

5 papers

NM_001048201.3

p.D334A

c.1001A>C

5 papers

NM_001048201.3

p.D337A

c.1010A>C

1 paper

NM_001048201.3

p.Q330K

c.988C>A

2 papers

NM_001048201.3

p.R296W

c.886C>T

1 paper

NM_001048201.3

p.P293A

c.877C>G

1 paper

NM_001048201.3

p.P288S

c.862C>T

1 paper

NM_001048201.3

p.E285K

c.853G>A

1 paper

NM_001048201.3

p.P283L

c.848C>T

1 paper

NM_001048201.3

p.V274M

c.820G>A

1 paper

NM_001048201.3

p.A389A

c.1167C>T

1 paper

NM_001048201.3

p.S392A

c.1174T>G

1 paper

NM_001048201.3

p.R406H

c.1217G>A