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

1 paper

NM_001048201.3

p.K50R

c.149A>G

Surrounding Variants

1 paper

NM_001048201.3

p.G49D

c.146G>A

3 papers

NM_001048201.3

p.F46V

c.136T>G

1 paper

NM_001048201.3

p.E39K

c.115G>A

1 paper

NM_001048201.3

p.L28L

c.82C>T

1 paper

NM_001048201.3

p.V25G

c.74T>G

1 paper

NM_001048201.3

p.K24K

c.72G>A

1 paper

NM_001048201.3

p.K24R

c.71A>G

1 paper

NM_001048201.3

p.D9D

c.27C>T

1 paper

NM_001048201.3

p.D9G

c.26A>G

1 paper

NM_001048201.3

p.M8T

c.23T>C

1 paper

NM_001048201.3

p.M8R

c.23T>G

1 paper

NM_001048201.3

p.M8V

c.22A>G