Varaico: Literature-Extracted Genetic Variants

Gene:HCCS
Variant:p.D257A

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.D257A
c.770A>C
Surrounding Variants
1 paper
NM_005333.5
p.L252F
c.754C>T
1 paper
NM_005333.5
p.L252delFs
c.756delT
2 papers
NM_005333.5
p.W263*
c.788G>A
3 papers
NM_005333.5
p.W263*
c.789G>A
1 paper
NM_005333.5
p.A248D
c.743C>A
1 paper
NM_005333.5
p.A248S
c.742G>T
1 paper
NM_005333.5
p.Q239*
c.715C>T
1 paper
NM_005333.5
p.K236K
c.708G>A
1 paper
NM_005333.5
p.V225fs
c.673_674fs
7 papers
NM_005333.5
p.R217C
c.649C>T
1 paper
NM_005333.5
p.E205K
c.613G>A
1 paper
NM_005333.5
p.G203Splc
c.608+5G>A
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