Varaico: Literature-Extracted Genetic Variants

Gene:CYB5A
Variant:p.V34L

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.V34L
c.100G>C
Surrounding Variants
1 paper
NM_148923.4
p.V34L
c.100G>T
1 paper
NM_148923.4
p.H32_K33delFs
c.96_97delTG
1 paper
NM_148923.4
p.Y35C
c.104A>G
2 papers
NM_148923.4
p.Y35*
c.105C>G
2 papers
NM_148923.4
p.Y35*
c.105C>A
2 papers
NM_148923.4
p.D36G
c.107A>G
1 paper
NM_148923.4
p.D36A
c.107A>C
1 paper
NM_148923.4
p.L37V
c.109T>G
1 paper
NM_148923.4
p.L37F
c.111G>T
1 paper
NM_148923.4
p.L37F
c.111G>C
1 paper
NM_148923.4
p.K39I
c.116A>T
1 paper
NM_148923.4
p.F40L
c.118T>C
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