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

1–12 of 93 variants

5 papers

NM_001048201.3

p.D142A

c.425A>C

5 papers

NM_001048201.3

p.D334A

c.1001A>C

5 papers

NM_001048201.3

p.D337A

c.1010A>C

3 papers

NM_001048201.3

p.F46V

c.136T>G

3 papers

NM_013282.5

p.V172M

c.514G>A

3 papers

NM_001048201.3

p.E335A

c.1004A>C

3 papers

NM_001048201.3

p.G448D

c.1343G>A

3 papers

NM_001048201.3

p.S661A

c.1981T>G

2 papers

NM_001048201.3

p.D190Y

c.568G>T

2 papers

NM_001048201.3

p.R296W

c.886C>T

2 papers

NM_001048201.3

p.D469G

c.1406A>G

2 papers

NM_001048201.3

p.R618*

c.1852C>T