Varaico: Literature-Extracted Genetic Variants

Gene:CYB5A
Variant:p.A122delFs

CYB5A

153 papers

RefSeq Summary

The protein encoded by this gene is a membrane-bound cytochrome that reduces ferric hemoglobin (methemoglobin) to ferrous hemoglobin, which is required for stearyl-CoA-desaturase activity. Defects in ...

Pfam Domains

Cyt-b5aa 13–85UCSCCytochrome b5-like Heme/Steroid binding domain

Gene Aliases

HGNC Name

cytochrome b5 type A

HGNC Alias Symbol

MCB5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_148923.4
p.A122delFs
c.364delC
Surrounding Variants
1 paper
NM_148923.4
p.A122fs
c.364_365fs
1 paper
NM_148923.4
p.V123F
c.367G>T
1 paper
NM_148923.4
p.V121V
c.363G>A
1 paper
NM_148923.4
p.V123V
c.369C>T
1 paper
NM_148923.4
p.L125V
c.373T>G
2 papers
NM_148923.4
p.S119F
c.356C>T
2 papers
NM_148923.4
p.S119A
c.355T>G
1 paper
NM_148923.4
p.M126L
c.376A>T
1 paper
NM_148923.4
p.M126V
c.376A>G
1 paper
NM_148923.4
p.M126L
c.376A>C
4 papers
NM_148923.4
p.I118V
c.352A>G
2 papers
NM_148923.4
p.A117G
c.350C>G
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