Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.F83fs

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.F83fs
c.247_248fs
Surrounding Variants
4 papers
NM_000101.4
p.P82delFs
c.246delG
1 paper
NM_000101.4
p.G81V
c.242G>T
1 paper
NM_000101.4
p.T84T
c.252C>T
4 papers
NM_000101.4
p.Y87*
c.261C>G
5 papers
NM_000101.4
p.Y87*
c.261C>A
1 paper
NM_000101.4
p.A75_V76del2
c.223_227del6
1 paper
NM_000101.4
p.V76M
c.226G>A
12 papers
NM_000101.4
p.R90W
c.268C>T
4 papers
NM_000101.4
p.R90G
c.268C>G
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
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