Varaico: Literature-Extracted Genetic Variants

UHRF2

44 papers

RefSeq Summary

This gene encodes a nuclear protein which is involved in cell-cycle regulation. The encoded protein is a ubiquitin-ligase capable of ubiquinating PCNP (PEST-containing nuclear protein), and together t...

Pfam Domains

ubiquitinaa 3–76UCSCUbiquitin family

TTDaa 124–312UCSCTandem tudor domain within UHRF1

PHDaa 347–392UCSCPHD-finger

SAD_SRAaa 446–616UCSCSAD/SRA domain

Gene Aliases

HGNC Name

ubiquitin like with PHD and ring finger domains 2

HGNC Alias Symbols

RNF107; NIRF; URF2; MGC33463; TDRD23

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_152896.3

p.G106V

c.317G>T

Surrounding Variants

1 paper

NM_152896.3

p.R116H

c.347G>A

1 paper

NM_152896.3

p.S93C

c.278C>G

1 paper

NM_152896.3

p.C92S

c.275G>C

1 paper

NM_152896.3

p.C92S

c.274T>A

1 paper

NM_152896.3

p.I87N

c.260T>A

1 paper

NM_152896.3

p.P75R

c.224C>G

1 paper

NM_152896.3

p.L65L

c.195G>T

1 paper

NM_152896.3

p.R39Q

c.116G>A

1 paper

NM_152896.3

p.R21R

c.63C>G

1 paper

NM_152896.3

p.S11C

c.32C>G

1 paper

NM_152896.3

p.W2*

c.5G>A