Varaico: Literature-Extracted Genetic Variants

Gene:HCCS
Variant:p.V64M

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.V64M
c.190G>A
Surrounding Variants
1 paper
NM_005333.5
p.R59C
c.175C>T
2 papers
NM_005333.5
p.A72V
c.215C>T
1 paper
NM_005333.5
p.A72A
c.216G>C
1 paper
NM_005333.5
p.A55T
c.163G>A
1 paper
NM_005333.5
p.T50P
c.148A>C
1 paper
NM_005333.5
p.S82*
c.245C>A
1 paper
NM_005333.5
p.S82*
c.245C>G
1 paper
NM_005333.5
p.L84L
c.250C>T
1 paper
NM_005333.5
p.M85insFs
c.253dupA
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.P92_A93del1
c.276_278delAGC
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