Varaico: Literature-Extracted Genetic Variants

Gene:CRLS1
Variant:p.L120F

CRLS1

77 papers

RefSeq Summary

This gene encodes a member of the CDP-alcohol phosphatidyltransferase class-I family of proteins. The encoded enzyme catalyzes the synthesis of cardiolipin, a phospholipid component of mitochondrial m...

Pfam Domains

CDP-OH_P_transfaa 107–282UCSCCDP-alcohol phosphatidyltransferase

Gene Aliases

HGNC Name

cardiolipin synthase 1

HGNC Previous Symbol

C20orf155

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019095.6
p.L120F
c.360G>T
Surrounding Variants
1 paper
NM_019095.6
p.L120F
c.360G>C
1 paper
NM_019095.6
p.Y126C
c.377A>G
1 paper
NM_019095.6
p.L127V
c.379T>G
2 papers
NM_019095.6
p.I109N
c.326T>A
1 paper
NM_019095.6
p.I109_L113Fs
c.326_338delinsCTCGAGACFs
1 paper
NM_019095.6
p.G138R
c.412G>A
1 paper
NM_019095.6
p.F140delFs
c.418delT
1 paper
NM_019095.6
p.V139delFs
c.416_417delTT
1 paper
NM_019095.6
p.D147A
c.440A>C
1 paper
NM_019095.6
p.E88insFs
c.262_263insA
1 paper
NM_019095.6
p.A86D
c.257C>A
1 paper
NM_019095.6
p.G84delFs
c.252delC
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