Varaico: Literature-Extracted Genetic Variants

Gene:NSMCE1
Variant:p.E238A

NSMCE1

30 papers

Pfam Domains

SMC_Nse1aa 15–176UCSCNse1 non-SMC component of SMC5-6 complex
zf-RING-likeaa 191–231UCSCRING-like domain

Gene Aliases

HGNC Name

NSE1 component of SMC5/6 complex

HGNC Alias Symbol

NSE1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145080.4
p.E238A
c.713A>C
Surrounding Variants
1 paper
NM_145080.4
p.S222*
c.665C>A
1 paper
NM_145080.4
p.V216A
c.647T>C
1 paper
NM_145080.4
p.T206_C207delins
c.618_620delinsAGC
3 papers
NM_145080.4
p.D244N
c.730G>A
1 paper
NM_145080.4
p.S256L
c.767C>T
1 paper
NM_145080.4
p.Q200_G201Splc
c.600+7G>A
1 paper
NM_145080.4
p.D186N
c.556G>A
1 paper
NM_145080.4
p.E177E
c.531G>A
1 paper
NM_145080.4
p.A146V
c.437C>T
1 paper
NM_145080.4
p.E145*
c.433G>T
1 paper
NM_145080.4
p.R142S
c.426G>T
1 paper
NM_145080.4
p.R142S
c.426G>C
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