Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.L123_A124Splc

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
9 papers
NM_000101.4
p.L123_A124Splc
c.369+1G>A
Surrounding Variants
1 paper
NM_000101.4
p.L123_A124Splc
c.369+1G>T
2 papers
NM_000101.4
p.L123_A124Splc
c.369+1G>C
7 papers
NM_000101.4
p.Y121H
c.361T>C
1 paper
NM_000101.4
p.G119C
c.355G>T
6 papers
NM_000101.4
p.S118R
c.354C>G
7 papers
NM_000101.4
p.S118R
c.354C>A
4 papers
NM_000101.4
p.S118N
c.353G>A
6 papers
NM_000101.4
p.S118R
c.352A>C
2 papers
NM_000101.4
p.A117E
c.350C>A
1 paper
NM_000101.4
p.I116fs
c.346_347fs
1 paper
NM_000101.4
p.A115D
c.344C>A
3 papers
NM_000101.4
p.C113*
c.339C>A
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