Varaico: Literature-Extracted Genetic Variants

Gene:STARD5
Variant:p.S39F

STARD5

29 papers

RefSeq Summary

Proteins containing a steroidogenic acute regulatory-related lipid transfer (START) domain are often involved in the trafficking of lipids and cholesterol between diverse intracellular membranes. This...

Pfam Domains

STARTaa 7–213UCSCSTART domain

Gene Aliases

HGNC Name

StAR related lipid transfer domain containing 5

HGNC Alias Symbol

MGC10327

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_181900.3
p.S39F
c.116C>T
Surrounding Variants
1 paper
NM_181900.3
p.P47fs
c.139_140fs
1 paper
NM_181900.3
p.V77M
c.229G>A
1 paper
NM_181900.3
p.E81K
c.241G>A
1 paper
NM_181900.3
p.E87_I88del2
c.259_263del6
1 paper
NM_181900.3
p.Q90*
c.268C>T
1 paper
NM_181900.3
p.S91T
c.272G>C
1 paper
NM_181900.3
p.C30*
c.90C>A
1 paper
NM_181900.3
p.I29_C30delFs
c.87_88delAA
1 paper
NM_181900.3
p.I29fs
c.85_86fs
1 paper
NM_181900.3
p.P3R
c.8C>G
1 paper
NM_181900.3
p.D2H
c.4G>C
1 paper
NM_181900.3
p.T95P
c.283A>C
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