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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NDUFA13

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 62 variants

10 papers

chr19:19526257 G>A

NM_015965.7

p.R57H

c.170G>A

GRIM-19

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=1, hom=0)14 overlapping SVs

4 papers

chr19:19526194 T>C

NM_015965.7

p.L36P

c.107T>C

GRIM-19

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)14 overlapping SVs

3 papers

chr19:19516253 G>C

NM_015965.7

p.K5N

c.15G>C

GRIM-19

exact variant not in gnomAD13 overlapping SVs

3 papers

chr19:19516253 G>T

NM_015965.7

p.K5N

c.15G>T

GRIM-19

exact variant not in gnomAD13 overlapping SVs

3 papers

chr19:19516269 C>G

NM_015965.7

p.P11A

c.31C>G

GRIM-19

exact variant not in gnomAD13 overlapping SVs

3 papers

chr19:19516312 T>G

NM_015965.7

p.L25W

c.74T>G

GRIM-19

Exome: 0.1% (AC=742, hom=5)Genome: 0.1% (AC=92, hom=2)13 overlapping SVs

3 papers

chr19:19516333 G>A

NM_015965.7

p.G32Splc

c.94+1G>A

Exome: 0.0% (AC=63, hom=0)Genome: 0.0% (AC=7, hom=0)13 overlapping SVs

2 papers

chr19:19516262 G>C

NM_015965.7

p.Q8H

c.24G>C

GRIM-19

exact variant not in gnomAD13 overlapping SVs

2 papers

chr19:19516262 G>T

NM_015965.7

p.Q8H

c.24G>T

GRIM-19

exact variant not in gnomAD13 overlapping SVs

2 papers

chr19:19516264 A>C

NM_015965.7

p.D9A

c.26A>C

GRIM-19

exact variant not in gnomAD13 overlapping SVs

2 papers

chr19:19516282 G>A

NM_015965.7

p.G15D

c.44G>A

GRIM-19

Exome: 0.0% (AC=15, hom=0)Genome: 0.0% (AC=4, hom=0)13 overlapping SVs

2 papers

chr19:19516315 C>T

NM_015965.7

p.P26L

c.77C>T

GRIM-19

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=1, hom=0)13 overlapping SVs

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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."