Varaico: Literature-Extracted Genetic Variants

Gene:NDUFA13
Variant:p.R27P

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.R27P
c.80G>C
Surrounding Variants
2 papers
NM_015965.7
p.P26L
c.77C>T
3 papers
NM_015965.7
p.L25W
c.74T>G
3 papers
NM_015965.7
p.G32Splc
c.94+1G>A
2 papers
NM_015965.7
p.G15D
c.44G>A
1 paper
NM_015965.7
p.G15fs
c.43_44fs
1 paper
NM_015965.7
p.P11T
c.31C>A
3 papers
NM_015965.7
p.P11A
c.31C>G
1 paper
NM_015965.7
p.M10T
c.29T>C
2 papers
NM_015965.7
p.D9A
c.26A>C
1 paper
NM_015965.7
p.D9H
c.25G>C
2 papers
NM_015965.7
p.Q8H
c.24G>C
2 papers
NM_015965.7
p.Q8H
c.24G>T
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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."