Varaico: Literature-Extracted Genetic Variants

Gene:NSMCE2
Variant:p.T188S

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
1 paper
NM_173685.4
p.T188S
c.562A>T
Surrounding Variants
1 paper
NM_173685.4
p.T188S
c.563C>G
1 paper
NM_173685.4
p.H187Y
c.559C>T
1 paper
NM_173685.4
p.C185S
c.554G>C
1 paper
NM_173685.4
p.C185S
c.553T>A
1 paper
NM_173685.4
p.D192D
c.576C>T
1 paper
NM_173685.4
p.A193T
c.577G>A
1 paper
NM_173685.4
p.K173_E174Splc
c.519+3A>G
1 paper
NM_173685.4
p.V160L
c.478G>C
1 paper
NM_173685.4
p.V160L
c.478G>T
1 paper
NM_173685.4
p.D157_I158delFs
c.471_474del4
1 paper
NM_173685.4
p.D155E
c.465T>A
1 paper
NM_173685.4
p.D155E
c.465T>G
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