Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.E171G

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
3 papers
NM_000101.4
p.E171G
c.512A>G
Surrounding Variants
1 paper
NM_000101.4
p.E170V
c.509A>T
5 papers
NM_000101.4
p.E170K
c.508G>A
1 paper
NM_000101.4
p.A173T
c.517G>A
1 paper
NM_000101.4
p.E169K
c.505G>A
1 paper
NM_000101.4
p.V174_A175insT
c.520_524ins3
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.A175_A176ins15
c.523_527ins45
1 paper
NM_000101.4
p.A175G
c.524C>G
1 paper
NM_000101.4
p.V174_A175del1
c.521_523delCCA
2 papers
NM_000101.4
p.A161_K166Fs
c.482_498delinsCFs
1 paper
NM_000101.4
p.P167_S168insAG
c.499_503ins6
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