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.L724P

c.2171T>C

Surrounding Variants

1 paper

NM_152896.3

p.C735S

c.2203T>A

1 paper

NM_152896.3

p.C735S

c.2204G>C

2 papers

NM_152896.3

p.Y741S

c.2222A>C

1 paper

NM_152896.3

p.E747Q

c.2239G>C

1 paper

NM_152896.3

p.C756Y

c.2267G>A

1 paper

NM_152896.3

p.C771C

c.2313C>T

1 paper

NM_152896.3

p.E719K

c.2155G>A

1 paper

NM_152896.3

p.W710*

c.2130G>A

1 paper

NM_152896.3

p.W710*

c.2129G>A

1 paper

NM_152896.3

p.L709P

c.2126T>C

1 paper

NM_152896.3

p.A684T

c.2050G>A

1 paper

NM_152896.3

p.K663E

c.1987A>G