Varaico: Literature-Extracted Genetic Variants

Gene:STARD6
Variant:p.I117M

STARD6

27 papers

RefSeq Summary

Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol de...

Pfam Domains

STARTaa 8–222UCSCSTART domain

Gene Aliases

HGNC Name

StAR related lipid transfer domain containing 6

HGNC Previous Name

START domain containing 6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_139171.2
p.I117M
c.351C>G
Surrounding Variants
1 paper
NM_139171.2
p.S100S
c.300T>C
1 paper
NM_139171.2
p.S100C
c.298A>T
1 paper
NM_139171.2
p.R145S
c.433C>A
1 paper
NM_139171.2
p.R145H
c.434G>A
1 paper
NM_139171.2
p.G146S
c.436G>A
1 paper
NM_139171.2
p.C155Y
c.464G>A
2 papers
NM_139171.2
p.E159K
c.475G>A
1 paper
NM_139171.2
p.N82N
c.246T>C
1 paper
NM_139171.2
p.K178*
c.532A>T
2 papers
NM_139171.2
p.S182*
c.545C>G
2 papers
NM_139171.2
p.S182*
c.545C>A
1 paper
NM_139171.2
p.I196V
c.586A>G
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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."