Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.H94R

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
5 papers
NM_000101.4
p.H94R
c.281A>G
Surrounding Variants
2 papers
NM_000101.4
p.H94L
c.281A>T
1 paper
NM_000101.4
p.H94Y
c.280C>T
1 paper
NM_000101.4
p.V92V
c.276C>T
3 papers
NM_000101.4
p.L96Splc
c.287+1G>T
3 papers
NM_000101.4
p.L96Splc
c.287+1G>A
1 paper
NM_000101.4
p.V92I
c.274G>A
1 paper
NM_000101.4
p.P82_A91delFs
c.246_273del28
3 papers
NM_000101.4
p.L96Splc
c.287+2T>C
1 paper
NM_000101.4
p.R90L
c.269G>T
3 papers
NM_000101.4
p.R90P
c.269G>C
17 papers
NM_000101.4
p.R90Q
c.269G>A
12 papers
NM_000101.4
p.R90W
c.268C>T
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