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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYBA

CYBA

352 papers

RefSeq Summary

Cytochrome b is comprised of a light chain (alpha) and a heavy chain (beta). This gene encodes the light, alpha subunit which has been proposed as a primary component of the microbicidal oxidase syste...

Pfam Domains

Cytochrom_B558aaa 2–193UCSCCytochrome Cytochrome b558 alpha-subunit

Gene Aliases

HGNC Name

cytochrome b-245 alpha chain

HGNC Alias Symbols

p22-PHOX; p22phox

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 220 variants

45 papers

chr16:88646828 A>G

NM_000101.4

p.Y72H

c.214T>C

Cytochrom_B558a

Exome: 67.4% (AC=983701, hom=334674)Genome: 65.3% (AC=99225, hom=32939)4 overlapping SVs

24 papers

chr16:88648103 C>T

NM_000101.4

p.G24R

c.70G>A

Cytochrom_B558a

Exome: 0.0% (AC=16, hom=0)Genome: n/a5 overlapping SVs

21 papers

chr16:88651007 G>A

NM_000101.4

p.Q3*

c.7C>T

Cytochrom_B558a

Exome: 0.0% (AC=10, hom=0)Genome: n/a3 overlapping SVs

21 papers

chr16:88643474 G>T

NM_000101.4

p.P156Q

c.467C>A

Cytochrom_B558a

Exome: 0.0% (AC=3, hom=0)Genome: n/a5 overlapping SVs

20 papers

chr16:88648103 C>G

NM_000101.4

p.G24R

c.70G>C

Cytochrom_B558a

exact variant not in gnomAD5 overlapping SVs

17 papers

chr16:88646773 C>T

NM_000101.4

p.R90Q

c.269G>A

Cytochrom_B558a

Exome: 0.0% (AC=6, hom=0)Genome: n/a4 overlapping SVs

14 papers

chr16:88643392 G>A

NM_000101.4

p.P183P

c.549C>T

Cytochrom_B558a

Exome: 0.0% (AC=1, hom=0)Genome: n/a5 overlapping SVs

13 papers

chr16:88643570 G>A

NM_000101.4

p.A124V

c.371C>T

Cytochrom_B558a

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=4, hom=0)5 overlapping SVs

13 papers

chr16:88643420 A>G

NM_000101.4

p.V174A

c.521T>C

Cytochrom_B558a

Exome: 61.9% (AC=853140, hom=266009)Genome: 68.7% (AC=104409, hom=36615)5 overlapping SVs

12 papers

chr16:88646774 G>A

NM_000101.4

p.R90W

c.268C>T

Cytochrom_B558a

Exome: 0.0% (AC=93, hom=0)Genome: 0.0% (AC=9, hom=0)4 overlapping SVs

9 papers

chr16:88646115 C>T

NM_000101.4

p.L123_A124Splc

c.369+1G>A

Cytochrom_B558a

Exome: 0.0% (AC=5, hom=0)Genome: n/a5 overlapping SVs

8 papers

chr16:88650990 C>T

NM_000101.4

p.M8I

c.24G>A

Cytochrom_B558a

Exome: 0.0% (AC=0, hom=0)Genome: n/a3 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."