Varaico: Literature-Extracted Genetic Variants

Gene:CYB5A
Variant:p.K19*

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.K19*
c.55A>T
Surrounding Variants
1 paper
NM_148923.4
p.E16del1
c.46_47delCTC
2 papers
NM_148923.4
p.N21K
c.63C>G
1 paper
NM_148923.4
p.N21K
c.63C>A
2 papers
NM_148923.4
p.H22R
c.65A>G
1 paper
NM_148923.4
p.S23N
c.68G>A
1 paper
NM_148923.4
p.K24R
c.71A>G
3 papers
NM_148923.4
p.Y12Y
c.36C>T
1 paper
NM_148923.4
p.S25R
c.75C>G
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
16 papers
NM_148923.4
p.W27*
c.80G>A
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