Varaico: Literature-Extracted Genetic Variants

Gene:UBE2S
Variant:p.N140insFs

UBE2S

447 papers

RefSeq Summary

This gene encodes a member of the ubiquitin-conjugating enzyme family. The encoded protein is able to form a thiol ester linkage with ubiquitin in a ubiquitin activating enzyme-dependent manner, a cha...

Pfam Domains

UQ_conaa 15–152UCSCUbiquitin-conjugating enzyme

Gene Aliases

HGNC Name

ubiquitin conjugating enzyme E2 S

HGNC Alias Symbol

E2-EPF

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_014501.3
p.N140insFs
c.418_419insG
Surrounding Variants
1 paper
NM_014501.3
p.Y141N
c.421T>A
1 paper
NM_014501.3
p.L138*
c.413T>A
1 paper
NM_014501.3
p.L136Q
c.407T>A
1 paper
NM_014501.3
p.G134V
c.401G>T
1 paper
NM_014501.3
p.A145A
c.435G>A
1 paper
NM_014501.3
p.R149H
c.446G>A
1 paper
NM_014501.3
p.N130N
c.390C>T
1 paper
NM_014501.3
p.A128V
c.383C>T
1 paper
NM_014501.3
p.T152A
c.454A>G
1 paper
NM_014501.3
p.E153K
c.457G>A
1 paper
NM_014501.3
p.E126D
c.378G>T
1 paper
NM_014501.3
p.E126D
c.378G>C
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