Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.A75delFs

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
4 papers
NM_000101.4
p.A75delFs
c.223delC
Surrounding Variants
1 paper
NM_000101.4
p.T74delFs
c.222delG
1 paper
NM_000101.4
p.A75fs
c.223_224fs
1 paper
NM_000101.4
p.V76M
c.226G>A
1 paper
NM_000101.4
p.M73I
c.219G>T
1 paper
NM_000101.4
p.M73I
c.219G>C
1 paper
NM_000101.4
p.M73I
c.219G>A
1 paper
NM_000101.4
p.A75_V76del2
c.223_227del6
45 papers
NM_000101.4
p.Y72H
c.214T>C
1 paper
NM_000101.4
p.G81V
c.242G>T
3 papers
NM_000101.4
p.G69*
c.205G>T
5 papers
NM_000101.4
p.W68Splc
c.204-2A>G
1 paper
NM_000101.4
p.F83fs
c.247_248fs
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