Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA13
Variant:p.R57H

NDUFA13

71 papers

RefSeq Summary

This gene encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), which functions in the transfer of electrons from NADH to the respiratory chain. The protein...

Pfam Domains

GRIM-19aa 5–129UCSCGRIM-19 protein

Gene Aliases

HGNC Name

NADH:ubiquinone oxidoreductase subunit A13

HGNC Alias Symbols

CGI-39; CDA016; GRIM-19; GRIM19; B16.6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
10 papers
NM_015965.7
p.R57H
c.170G>A
Surrounding Variants
1 paper
NM_015965.7
p.R58W
c.172A>T
1 paper
NM_015965.7
p.R55P
c.164G>C
1 paper
NM_015965.7
p.I50I
c.150A>C
1 paper
NM_015965.7
p.H47Q
c.141C>G
4 papers
NM_015965.7
p.L36P
c.107T>C
1 paper
NM_015965.7
p.S34N
c.101G>A
1 paper
NM_015965.7
p.G32Splc
c.95-1G>A
2 papers
NM_015965.7
p.Q61R
c.182A>G
1 paper
NM_015965.7
p.Q61L
c.182A>T
2 papers
NM_015965.7
p.E63K
c.187G>A
2 papers
NM_015965.7
p.F65delFs
c.194delT
2 papers
NM_015965.7
p.F65fs
c.193_194fs
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