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.A684T

c.2050G>A

Surrounding Variants

1 paper

NM_152896.3

p.L709P

c.2126T>C

1 paper

NM_152896.3

p.W710*

c.2129G>A

1 paper

NM_152896.3

p.W710*

c.2130G>A

1 paper

NM_152896.3

p.E719K

c.2155G>A

1 paper

NM_152896.3

p.K663E

c.1987A>G

1 paper

NM_152896.3

p.D644H

c.1930G>C

1 paper

NM_152896.3

p.Q636_Y637Splc

c.1909-7C>G

1 paper

NM_152896.3

p.W606*

c.1818G>A

1 paper

NM_152896.3

p.W606*

c.1817G>A

1 paper

NM_152896.3

p.S598L

c.1793C>T

1 paper

NM_152896.3

p.W594delFs

c.1782delG

1 paper

NM_152896.3

p.K592T

c.1775A>C