Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.E64fs

STAR

586 papers

RefSeq Summary

The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage o...

Pfam Domains

STARTaa 76–281UCSCSTART domain

Gene Aliases

HGNC Name

steroidogenic acute regulatory protein

HGNC Previous Name

steroidogenic acute regulator

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000349.3
p.E64fs
c.190_191fs
Surrounding Variants
1 paper
NM_000349.3
p.E64K
c.190G>A
1 paper
NM_000349.3
p.E64A
c.191A>C
4 papers
NM_000349.3
p.L63delFs
c.189delC
1 paper
NM_000349.3
p.L63R
c.188T>G
1 paper
NM_000349.3
p.E64D
c.192A>T
1 paper
NM_000349.3
p.E64E
c.192A>G
1 paper
NM_000349.3
p.E64D
c.192A>C
1 paper
NM_000349.3
p.L63M
c.187C>A
1 paper
NM_000349.3
p.R62W
c.184C>T
1 paper
NM_000349.3
p.G60D
c.179G>A
1 paper
NM_000349.3
p.G60S
c.178G>A
4 papers
NM_000349.3
p.Y68fs
c.202_203fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."