Varaico: Literature-Extracted Genetic Variants

Gene:HCCS
Variant:p.V103ins1

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
3 papers
NM_005333.5
p.V103ins1
c.308_309insAGT
Surrounding Variants
1 paper
NM_005333.5
p.E105Q
c.313G>C
1 paper
NM_005333.5
p.P92Q
c.275C>A
1 paper
NM_005333.5
p.P92_A93del1
c.276_278delAGC
1 paper
NM_005333.5
p.M85L
c.253A>C
1 paper
NM_005333.5
p.M85L
c.253A>T
1 paper
NM_005333.5
p.M85insFs
c.253dupA
1 paper
NM_005333.5
p.P121A
c.361C>G
1 paper
NM_005333.5
p.P121L
c.362C>T
1 paper
NM_005333.5
p.K138insFs
c.412dupA
2 papers
NM_005333.5
p.E140K
c.418G>A
1 paper
NM_005333.5
p.D141G
c.422A>G
1 paper
NM_005333.5
p.Q144delFs
c.432delG
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