Varaico: Literature-Extracted Genetic Variants

Gene:NSMCE2
Variant:p.L27F

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
Selected Variant
3 papers
NM_173685.4
p.L27F
c.81G>T
Surrounding Variants
3 papers
NM_173685.4
p.L27F
c.81G>C
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
1 paper
NM_173685.4
p.G37fs
c.109_110fs
1 paper
NM_173685.4
p.S16F
c.47C>T
1 paper
NM_173685.4
p.D47_L48delins
c.141_143delinsAGA
1 paper
NM_173685.4
p.L48V
c.142C>G
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