Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.K236del1

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.K236del1
c.706_707delCTT
Surrounding Variants
1 paper
NM_000349.3
p.K236fs
c.706_707fs
1 paper
NM_000349.3
p.K236K
c.708G>A
7 papers
NM_000349.3
p.K236Fs
c.707_708delinsCTTFs
5 papers
NM_000349.3
p.K238fs
c.712_713fs
10 papers
NM_000349.3
p.K236fs
c.706_707fs
2 papers
NM_000349.3
p.K238fs
c.712_713fs
5 papers
NM_000349.3
p.K238delFs
c.714delT
1 paper
NM_000349.3
p.M225_K238delFs
c.675_714del40
1 paper
NM_000349.3
p.S235F
c.704C>T
1 paper
NM_000349.3
p.C224_P234ins3
c.672_701dup30
2 papers
NM_000349.3
p.S235P
c.703T>C
1 paper
NM_000349.3
p.P234delFs
c.702delG
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