Varaico: Literature-Extracted Genetic Variants

Gene:HCCS
Variant:p.E191V

HCCS

86 papers

RefSeq Summary

The protein encoded by this gene is an enzyme that covalently links a heme group to the apoprotein of cytochrome c. Defects in this gene are a cause of microphthalmia syndromic type 7 (MCOPS7). Three ...

Pfam Domains

Cyto_heme_lyaseaa 3–263UCSCCytochrome c/c1 heme lyase

Gene Aliases

HGNC Name

holocytochrome c synthase

HGNC Previous Symbol

MLS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005333.5
p.E191V
c.572A>T
Surrounding Variants
1 paper
NM_005333.5
p.G187A
c.560G>C
2 papers
NM_005333.5
p.A196V
c.587C>T
5 papers
NM_005333.5
p.R197*
c.589C>T
1 paper
NM_005333.5
p.R197Q
c.590G>A
1 paper
NM_005333.5
p.M202insFs
c.605_606insA
1 paper
NM_005333.5
p.G203Splc
c.608+5G>A
1 paper
NM_005333.5
p.C176S
c.527G>C
1 paper
NM_005333.5
p.C176S
c.526T>A
2 papers
NM_005333.5
p.E175fs
c.523_524fs
2 papers
NM_005333.5
p.E175delFs
c.524_525delAG
1 paper
NM_005333.5
p.A174Splc
c.522-12G>A
1 paper
NM_005333.5
p.E205K
c.613G>A
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