Varaico: Literature-Extracted Genetic Variants

Gene:CYB5A
Variant:p.Y12Y

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
3 papers
NM_148923.4
p.Y12Y
c.36C>T
Surrounding Variants
1 paper
NM_148923.4
p.Y12H
c.34T>C
1 paper
NM_148923.4
p.Y11*
c.33C>G
1 paper
NM_148923.4
p.Y11*
c.33C>A
2 papers
NM_148923.4
p.V9L
c.25G>T
2 papers
NM_148923.4
p.V9L
c.25G>C
1 paper
NM_148923.4
p.E16del1
c.46_47delCTC
1 paper
NM_148923.4
p.E7E
c.21G>A
1 paper
NM_148923.4
p.D6delFs
c.18delG
1 paper
NM_148923.4
p.K19*
c.55A>T
1 paper
NM_148923.4
p.S5L
c.14C>T
6 papers
NM_148923.4
p.S5A
c.13T>G
2 papers
NM_148923.4
p.N21K
c.63C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."