Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.K166_P167insC

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
2 papers
NM_000101.4
p.K166_P167insC
c.496_500ins3
Surrounding Variants
1 paper
NM_000101.4
p.K166E
c.496A>G
1 paper
NM_000101.4
p.P167_S168insAG
c.499_503ins6
2 papers
NM_000101.4
p.A161_K166Fs
c.482_498delinsCFs
2 papers
NM_000101.4
p.R164H
c.491G>A
1 paper
NM_000101.4
p.R164G
c.490C>G
1 paper
NM_000101.4
p.A163G
c.488C>G
1 paper
NM_000101.4
p.E169K
c.505G>A
1 paper
NM_000101.4
p.R158_E162delFs
c.472_484del13
5 papers
NM_000101.4
p.E170K
c.508G>A
2 papers
NM_000101.4
p.E162fs
c.484_485fs
1 paper
NM_000101.4
p.E170V
c.509A>T
1 paper
NM_000101.4
p.P160fs
c.478_479fs
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