Varaico: Literature-Extracted Genetic Variants

Gene:NSMCE2

NSMCE2

57 papers

RefSeq Summary

This gene encodes a member of a family of E3 small ubiquitin-related modifier (SUMO) ligases that mediates the attachment of a SUMO protein to proteins involved in nuclear transport, transcription, ch...

Pfam Domains

zf-Nseaa 156–216UCSCZinc-finger of the MIZ type in Nse subunit

Gene Aliases

HGNC Name

NSE2 SUMO ligase component of SMC5/6 complex

HGNC Previous Symbol

C8orf36

Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
6 papers
NM_173685.4
p.S116delFs
c.346delT
4 papers
NM_173685.4
p.S116fs
c.346_347fs
3 papers
NM_173685.4
p.L27F
c.81G>C
3 papers
NM_173685.4
p.L27F
c.81G>T
3 papers
NM_173685.4
p.A234fs
c.700_701fs
2 papers
NM_173685.4
p.F126C
c.377T>G
1 paper
NM_173685.4
p.S16F
c.47C>T
1 paper
NM_173685.4
p.E21K
c.61G>A
1 paper
NM_173685.4
p.N35insFs
c.104_105ins5
1 paper
NM_173685.4
p.S36ins3
c.106_107ins9
1 paper
NM_173685.4
p.S36fs
c.106_107fs
1 paper
NM_173685.4
p.G37insFs
c.109_110insT
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