Varaico: Literature-Extracted Genetic Variants

Gene:STARD4
Variant:p.Y125H

STARD4

19 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 9–205UCSCSTART domain

Gene Aliases

HGNC Name

StAR related lipid transfer domain containing 4

HGNC Previous Name

START domain containing 4, sterol regulated

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_139164.3
p.Y125H
c.373T>C
Surrounding Variants
1 paper
NM_139164.3
p.K126_S131del0
c.378_392del15
2 papers
NM_139164.3
p.L107R
c.320T>G
1 paper
NM_139164.3
p.R76C
c.226C>T
3 papers
NM_139164.3
p.C75S
c.224G>C
3 papers
NM_139164.3
p.C75S
c.223T>A
1 paper
NM_139164.3
p.L62delFs
c.186delA
1 paper
NM_139164.3
p.Q183E
c.547C>G
1 paper
NM_139164.3
p.T193I
c.578C>T
1 paper
NM_139164.3
p.G199C
c.595G>T
1 paper
NM_139164.3
p.R202*
c.604C>T
1 paper
NM_139164.3
p.R202Q
c.605G>A
1 paper
NM_139164.3
p.Q20H
c.60G>T
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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."