Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COX6A2

Variant:p.S39R

COX6A2

19 papers

RefSeq Summary

Cytochrome c oxidase (COX), the terminal enzyme of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. It is a heteromeric complex consisting of 3...

Pfam Domains

COX6Aaa 12–90UCSCCytochrome c oxidase subunit VIa

Gene Aliases

HGNC Name

cytochrome c oxidase subunit 6A2

HGNC Alias Symbols

COX6AH; COXVIAH; COXVIa-M

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

4 papers

chr16:31428108 G>T

NM_005205.4

p.S39R

c.117C>A

COX6A

Exome: 0.0% (AC=1, hom=0)Genome: n/a6 overlapping SVs

Surrounding Variants

1 paper

chr16:31428108 G>A

NM_005205.4

p.S39S

c.117C>T

COX6A

Exome: 0.0% (AC=2, hom=0)Genome: n/a6 overlapping SVs

3 papers

chr16:31428108 G>C

NM_005205.4

p.S39R

c.117C>G

COX6A

Exome: 0.0% (AC=0, hom=0)Genome: n/a6 overlapping SVs

3 papers

chr16:31428110 T>G

NM_005205.4

p.S39R

c.115A>C

COX6A

exact variant not in gnomAD6 overlapping SVs

3 papers

chr16:31428098 A>G

NM_005205.4

p.C43R

c.127T>C

COX6A

Exome: 0.0% (AC=42, hom=0)Genome: 0.0% (AC=3, hom=0)6 overlapping SVs

1 paper

chr16:31428267 T>C

NM_005205.4

p.H20R

c.59A>G

COX6A

Exome: 0.0% (AC=12, hom=0)Genome: 0.0% (AC=1, hom=0)6 overlapping SVs

1 paper

chr16:31428282 G>A

NM_005205.4

p.A15V

c.44C>T

COX6A

Exome: 0.0% (AC=0, hom=0)Genome: n/a6 overlapping SVs

5 papers

chr16:31428292 A>C

NM_005205.4

p.L12V

c.34T>G

COX6A

Exome: 0.3% (AC=4174, hom=10)Genome: 0.3% (AC=386, hom=1)6 overlapping SVs

1 paper

chr16:31428318 A>G

NM_005205.4

p.L3S

c.8T>C

Exome: 0.0% (AC=0, hom=0)Genome: n/a6 overlapping SVs

2 papers

chr16:31428324 A>G

NM_005205.4

p.M1T

c.2T>C

Exome: 0.1% (AC=1138, hom=1)Genome: 0.0% (AC=76, hom=0)6 overlapping SVs

1 paper

chr16:31427814 C>T

NM_005205.4

p.S85N

c.254G>A

COX6A

Exome: 0.0% (AC=0, hom=0)Genome: n/a8 overlapping SVs

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."