Varaico: Literature-Extracted Genetic Variants

Gene:CYB5A
Variant:p.A132fs

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.A132fs
c.394_395fs
Surrounding Variants
1 paper
NM_148923.4
p.E133Q
c.397G>C
1 paper
NM_148923.4
p.A132delFs
c.394delC
1 paper
NM_148923.4
p.E133D
c.399G>T
1 paper
NM_148923.4
p.D134N
c.400G>A
2 papers
NM_148923.4
p.M131L
c.391A>T
1 paper
NM_148923.4
p.D134A
c.401A>C
1 paper
NM_148923.4
p.Y130*
c.390C>G
1 paper
NM_148923.4
p.Y130*
c.390C>A
1 paper
NM_148923.4
p.Y130S
c.389A>C
1 paper
NM_148923.4
p.L129I
c.385C>A
3 papers
NM_148923.4
p.R128C
c.382C>T
1 paper
NM_148923.4
p.M126L
c.376A>T
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