Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.R164G

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000101.4
p.R164G
c.490C>G
Surrounding Variants
2 papers
NM_000101.4
p.R164H
c.491G>A
1 paper
NM_000101.4
p.A163G
c.488C>G
1 paper
NM_000101.4
p.R158_E162delFs
c.472_484del13
2 papers
NM_000101.4
p.E162fs
c.484_485fs
1 paper
NM_000101.4
p.K166E
c.496A>G
2 papers
NM_000101.4
p.K166_P167insC
c.496_500ins3
1 paper
NM_000101.4
p.P167_S168insAG
c.499_503ins6
1 paper
NM_000101.4
p.P160fs
c.478_479fs
5 papers
NM_000101.4
p.P160P
c.480G>A
2 papers
NM_000101.4
p.P160delFs
c.479delG
2 papers
NM_000101.4
p.A161_K166Fs
c.482_498delinsCFs
1 paper
NM_000101.4
p.P160L
c.479C>T
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