Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.P179L

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
7 papers
NM_000101.4
p.P179L
c.536C>T
Surrounding Variants
1 paper
NM_000101.4
p.G178G
c.534A>G
1 paper
NM_000101.4
p.A175G
c.524C>G
1 paper
NM_000101.4
p.V174_A175del1
c.521_523delCCA
1 paper
NM_000101.4
p.A175_A176ins15
c.523_527ins45
14 papers
NM_000101.4
p.P183P
c.549C>T
1 paper
NM_000101.4
p.Q184*
c.550C>T
13 papers
NM_000101.4
p.V174A
c.521T>C
1 paper
NM_000101.4
p.K166_V174delins
c.496_521delinsCA
1 paper
NM_000101.4
p.V174_A175insT
c.520_524ins3
1 paper
NM_000101.4
p.V185I
c.553G>A
1 paper
NM_000101.4
p.A173T
c.517G>A
3 papers
NM_000101.4
p.E171G
c.512A>G
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