Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA13
Variant:p.E66G

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
1 paper
NM_015965.7
p.E66G
c.197A>G
Surrounding Variants
2 papers
NM_015965.7
p.F65fs
c.193_194fs
2 papers
NM_015965.7
p.F65delFs
c.194delT
1 paper
NM_015965.7
p.R68P
c.203G>C
2 papers
NM_015965.7
p.E63K
c.187G>A
2 papers
NM_015965.7
p.Q61R
c.182A>G
1 paper
NM_015965.7
p.Q61L
c.182A>T
1 paper
NM_015965.7
p.L71P
c.212T>C
1 paper
NM_015965.7
p.L75delFs
c.225delA
1 paper
NM_015965.7
p.Q76K
c.226C>A
1 paper
NM_015965.7
p.R81Q
c.242G>A
2 papers
NM_015965.7
p.T83A
c.247A>G
1 paper
NM_015965.7
p.R88G
c.262C>G
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