Varaico: Literature-Extracted Genetic Variants

Gene:CRLS1
Variant:p.E47K

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.E47K
c.139G>A
Surrounding Variants
1 paper
NM_019095.6
p.L45_A46Fs
c.134_136delinsCCFs
1 paper
NM_019095.6
p.C41C
c.123C>T
1 paper
NM_019095.6
p.P53S
c.157C>T
1 paper
NM_019095.6
p.A54insFs
c.161dupC
1 paper
NM_019095.6
p.P61S
c.181C>T
2 papers
NM_019095.6
p.A33T
c.97G>A
1 paper
NM_019095.6
p.P25L
c.74C>T
1 paper
NM_019095.6
p.P21P
c.63G>T
1 paper
NM_019095.6
p.A81A
c.243C>G
1 paper
NM_019095.6
p.G84delFs
c.252delC
1 paper
NM_019095.6
p.G9D
c.26G>A
1 paper
NM_019095.6
p.A86D
c.257C>A
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