Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.I108V

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.I108V
c.322A>G
Surrounding Variants
2 papers
NM_000101.4
p.L105R
c.314T>G
1 paper
NM_000101.4
p.T111I
c.332C>T
1 paper
NM_000101.4
p.C113S
c.337T>A
1 paper
NM_000101.4
p.C113S
c.338G>C
3 papers
NM_000101.4
p.C113*
c.339C>A
8 papers
NM_000101.4
p.V99_A101delFs
c.295_301del7
1 paper
NM_000101.4
p.A101T
c.301G>A
1 paper
NM_000101.4
p.A115D
c.344C>A
1 paper
NM_000101.4
p.P100S
c.298C>T
1 paper
NM_000101.4
p.I116fs
c.346_347fs
1 paper
NM_000101.4
p.V99fs
c.295_296fs
2 papers
NM_000101.4
p.A117E
c.350C>A
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