Varaico: Literature-Extracted Genetic Variants

Gene:CYBA
Variant:p.E12delFs

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.E12delFs
c.35delT
Surrounding Variants
5 papers
NM_000101.4
p.E12E
c.36A>G
1 paper
NM_000101.4
p.E12_Q13insFs
c.36_37insG
1 paper
NM_000101.4
p.Q13fs
c.37_38fs
1 paper
NM_000101.4
p.Q13_A14insFs
c.39_40insG
2 papers
NM_000101.4
p.N11S
c.32A>G
1 paper
NM_000101.4
p.W9insFs
c.27dupG
6 papers
NM_000101.4
p.W9*
c.27G>A
3 papers
NM_000101.4
p.A16V
c.47C>T
6 papers
NM_000101.4
p.W9*
c.26G>A
2 papers
NM_000101.4
p.S17P
c.49T>C
1 paper
NM_000101.4
p.M8fs
c.22_23fs
8 papers
NM_000101.4
p.M8I
c.24G>A
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