Varaico: Literature-Extracted Genetic Variants

Gene:HCCS
Variant:p.R152K

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
1 paper
NM_005333.5
p.R152K
c.455G>A
Surrounding Variants
1 paper
NM_005333.5
p.H154P
c.461A>C
7 papers
NM_005333.5
p.E159K
c.475G>A
4 papers
NM_005333.5
p.E159A
c.476A>C
1 paper
NM_005333.5
p.E159D
c.477G>C
1 paper
NM_005333.5
p.E159D
c.477G>T
1 paper
NM_005333.5
p.Q144delFs
c.432delG
1 paper
NM_005333.5
p.D141G
c.422A>G
2 papers
NM_005333.5
p.E140K
c.418G>A
1 paper
NM_005333.5
p.E164E
c.492G>A
1 paper
NM_005333.5
p.K138insFs
c.412dupA
1 paper
NM_005333.5
p.E169K
c.505G>A
1 paper
NM_005333.5
p.E169A
c.506A>C
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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."