Varaico: Literature-Extracted Genetic Variants

Gene:NDUFS5
Variant:p.T50A

NDUFS5

34 papers

RefSeq Summary

This gene is a member of the NADH dehydrogenase (ubiquinone) iron-sulfur protein family. The encoded protein is a subunit of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in...

Pfam Domains

Ndufs5aa 1–96UCSCNADH:ubiquinone oxidoreductase, NDUFS5-15kDa

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit S5

HGNC Alias Symbol

CI-15k

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004552.3
p.T50A
c.148A>G
Surrounding Variants
1 paper
NM_004552.3
p.R51Q
c.152G>A
1 paper
NM_004552.3
p.H45N
c.133C>A
1 paper
NM_004552.3
p.E37V
c.110A>T
2 papers
NM_004552.3
p.R32Q
c.95G>A
1 paper
NM_004552.3
p.R32*
c.94C>T
2 papers
NM_004552.3
p.R69Q
c.206G>A
1 paper
NM_004552.3
p.Q25E
c.73C>G
1 paper
NM_004552.3
p.E24K
c.70G>A
2 papers
NM_004552.3
p.R16Q
c.47G>A
1 paper
NM_004552.3
p.F10F
c.30C>T
1 paper
NM_004552.3
p.R75delFs
c.225delT
3 papers
NM_004552.3
p.P96S
c.286C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."