Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.Q130*

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
8 papers
NM_000101.4
p.Q130*
c.388C>T
Surrounding Variants
4 papers
NM_000101.4
p.E129_Q130delFs
c.385_388del4
1 paper
NM_000101.4
p.E129*
c.385G>T
4 papers
NM_000101.4
p.E129K
c.385G>A
3 papers
NM_000101.4
p.G128D
c.383G>A
1 paper
NM_000101.4
p.G128fs
c.382_383fs
1 paper
NM_000101.4
p.T132A
c.394A>G
4 papers
NM_000101.4
p.R127R
c.381T>C
1 paper
NM_000101.4
p.P133delFs
c.399delG
8 papers
NM_000101.4
p.A125T
c.373G>A
3 papers
NM_000101.4
p.E135K
c.403G>A
13 papers
NM_000101.4
p.A124V
c.371C>T
3 papers
NM_000101.4
p.A124S
c.370G>T
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