Varaico: Literature-Extracted Genetic Variants

Gene:CYB5A
Variant:p.E48D

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
2 papers
NM_148923.4
p.E48D
c.144A>C
Surrounding Variants
2 papers
NM_148923.4
p.E48D
c.144A>T
1 paper
NM_148923.4
p.E49Q
c.145G>C
5 papers
NM_148923.4
p.E48G
c.143A>G
2 papers
NM_148923.4
p.E48A
c.143A>C
5 papers
NM_148923.4
p.E49G
c.146A>G
1 paper
NM_148923.4
p.E49A
c.146A>C
1 paper
NM_148923.4
p.E49D
c.147A>T
1 paper
NM_148923.4
p.E49D
c.147A>C
2 papers
NM_148923.4
p.R52G
c.154A>G
2 papers
NM_148923.4
p.R52K
c.155G>A
1 paper
NM_148923.4
p.P45S
c.133C>T
4 papers
NM_148923.4
p.H44L
c.131A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."