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.E672Q

c.2014G>C

Surrounding Variants

1 paper

NM_001048201.3

p.E672insFs

c.2014_2015insC

1 paper

NM_001048201.3

p.K667N

c.2001G>C

1 paper

NM_001048201.3

p.K667N

c.2001G>T

4 papers

NM_001048201.3

p.S661A

c.1981T>G

NM_013282.5

p.S674A

c.2020T>G

1 paper

NM_001048201.3

p.A659_G660insFs

c.1977_1978insT

1 paper

NM_001048201.3

p.A659insFs

c.1976_1977insT

1 paper

NM_001048201.3

p.A659insFs

c.1975_1976insC

1 paper

NM_001048201.3

p.A659fs

c.1975_1976fs

1 paper

NM_013282.5

p.A719V

c.2156C>T

1 paper

NM_001048201.3

p.S651A

c.1951T>G

1 paper

NM_001048201.3

p.K646E

c.1936A>G

1 paper

NM_001048201.3

p.K644E

c.1930A>G