Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.T191S

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
1 paper
NM_000101.4
p.T191S
c.572C>G
Surrounding Variants
1 paper
NM_000101.4
p.D192ins2
c.574_575ins6
1 paper
NM_000101.4
p.Q184_D192delFs
c.552_574del23
1 paper
NM_000101.4
p.D192D
c.576C>T
3 papers
NM_000101.4
p.E193D
c.579G>T
2 papers
NM_000101.4
p.E193D
c.579G>C
4 papers
NM_000101.4
p.E193E
c.579G>A
1 paper
NM_000101.4
p.V185I
c.553G>A
1 paper
NM_000101.4
p.Q184*
c.550C>T
14 papers
NM_000101.4
p.P183P
c.549C>T
7 papers
NM_000101.4
p.P179L
c.536C>T
1 paper
NM_000101.4
p.G178G
c.534A>G
1 paper
NM_000101.4
p.A175G
c.524C>G
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