Varaico: Literature-Extracted Genetic Variants

Gene:CYB5A

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
1–12 of 115 variants
16 papers
NM_148923.4
p.W27*
c.80G>A
16 papers
NM_148923.4
p.W27*
c.81G>A
7 papers
NM_148923.4
p.P95H
c.284C>A
6 papers
NM_148923.4
p.S5A
c.13T>G
6 papers
NM_148923.4
p.T60A
c.178A>G
5 papers
NM_148923.4
p.E48G
c.143A>G
5 papers
NM_148923.4
p.E49G
c.146A>G
4 papers
NM_148923.4
p.H44L
c.131A>T
4 papers
NM_148923.4
p.D58G
c.173A>G
4 papers
NM_148923.4
p.D65G
c.194A>G
4 papers
NM_148923.4
p.I118V
c.352A>G
3 papers
NM_148923.4
p.Y12Y
c.36C>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."