Varaico: Literature-Extracted Genetic Variants

Gene:CYB5A
Variant:p.N62S

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.N62S
c.185A>G
Surrounding Variants
2 papers
NM_148923.4
p.E61G
c.182A>G
1 paper
NM_148923.4
p.E61Q
c.181G>C
1 paper
NM_148923.4
p.E64Q
c.190G>C
2 papers
NM_148923.4
p.T60S
c.178A>T
6 papers
NM_148923.4
p.T60A
c.178A>G
1 paper
NM_148923.4
p.D65N
c.193G>A
4 papers
NM_148923.4
p.D65G
c.194A>G
1 paper
NM_148923.4
p.D58delFs
c.173delT
4 papers
NM_148923.4
p.D58G
c.173A>G
1 paper
NM_148923.4
p.E53G
c.158A>G
1 paper
NM_148923.4
p.A72T
c.214G>A
2 papers
NM_148923.4
p.R52K
c.155G>A
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