Varaico: Literature-Extracted Genetic Variants

Gene:NSMCE2
Variant:p.F126C

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
2 papers
NM_173685.4
p.F126C
c.377T>G
Surrounding Variants
1 paper
NM_173685.4
p.A118V
c.353C>T
1 paper
NM_173685.4
p.S116fs
c.346_347fs
4 papers
NM_173685.4
p.S116fs
c.346_347fs
6 papers
NM_173685.4
p.S116delFs
c.346delT
1 paper
NM_173685.4
p.L109_A110insT
c.325_329ins3
1 paper
NM_173685.4
p.K106_K107ins9
c.316_320ins27
1 paper
NM_173685.4
p.V104_E105ins5
c.310_314ins15
1 paper
NM_173685.4
p.C140Splc
c.418+45G>A
1 paper
NM_173685.4
p.E92Q
c.274G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."