Varaico: Literature-Extracted Genetic Variants

USP11

54 papers

RefSeq Summary

Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugati...

Pfam Domains

DUSPaa 56–142UCSCDUSP domain

Ubiquitin_3aa 155–242UCSCUbiquitin-like domain

UCHaa 266–884UCSCUbiquitin carboxyl-terminal hydrolase

USP7_C2aa 438–568UCSCUbiquitin-specific protease C-terminal

Gene Aliases

HGNC Name

ubiquitin specific peptidase 11

HGNC Alias Symbol

UHX1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001371072.1

p.C283S

c.847T>A

Surrounding Variants

2 papers

NM_001371072.1

p.C283S

c.848G>C

1 paper

NM_001371072.1

p.K312*

c.934A>T

1 paper

NM_001371072.1

p.E317E

c.951G>A

5 papers

NM_001371072.1

p.C275S

c.824G>C

5 papers

NM_001371072.1

p.C275S

c.823T>A

1 paper

NM_001371072.1

p.S242R

c.726C>A

1 paper

NM_001371072.1

p.S242R

c.726C>G

1 paper

NM_001371072.1

p.S242R

c.724A>C

1 paper

NM_001371072.1

p.L208F

c.624G>C

1 paper

NM_001371072.1

p.L208F

c.624G>T

1 paper

NM_001371072.1

p.C428F

c.1283G>T

1 paper

NM_001371072.1

p.H449Y

c.1345C>T