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

2 papers

NM_001048201.3

p.D190Y

c.568G>T

Surrounding Variants

1 paper

NM_001048201.3

p.E180K

c.538G>A

1 paper

NM_001048201.3

p.S172Y

c.515C>A

4 papers

NM_013282.5

p.V172M

c.514G>A

NM_001048201.3

p.V159M

c.475G>A

1 paper

NM_001048201.3

p.V156M

c.466G>A

1 paper

NM_001048201.3

p.E153A

c.458A>C

5 papers

NM_001048201.3

p.D142A

c.425A>C

1 paper

NM_001048201.3

p.E139del1

c.415_416delGAG

1 paper

NM_001048201.3

p.K136R

c.407A>G

1 paper

NM_001048201.3

p.E131E

c.393A>G

1 paper

NM_001048201.3

p.T130T

c.390G>A

1 paper

NM_001048201.3

p.T130M

c.389C>T

1 paper

NM_001048201.3

p.D123N

c.367G>A