Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC10
Variant:p.E542K

EXOSC10

108 papers

Pfam Domains

PMC2NTaa 44–133UCSCPMC2NT (NUC016) domain
DNA_pol_A_exo1aa 288–456UCSC3'-5' exonuclease
HRDCaa 506–573UCSCHRDC domain

Gene Aliases

HGNC Name

exosome component 10

HGNC Previous Symbol

PMSCL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001001998.3
p.E542K
c.1624G>A
Surrounding Variants
1 paper
NM_001001998.3
p.G529Splc
c.1587-2A>G
1 paper
NM_001001998.3
p.G529Splc
c.1587-12T>G
1 paper
NM_001001998.3
p.T520delFs
c.1558delT
1 paper
NM_001001998.3
p.F510delFs
c.1530delA
1 paper
NM_001001998.3
p.W470*
c.1410G>A
1 paper
NM_001001998.3
p.W470*
c.1409G>A
1 paper
NM_001001998.3
p.V469M
c.1405G>A
2 papers
NM_001001998.3
p.P463P
c.1389G>C
1 paper
NM_001001998.3
p.R458R
c.1374C>G
1 paper
NM_001001998.3
p.D449H
c.1345G>C
1 paper
NM_001001998.3
p.Y448C
c.1343A>G
1 paper
NM_001001998.3
p.L445V
c.1333C>G
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