Varaico: Literature-Extracted Genetic Variants

Gene:STARD3

STARD3

83 papers

RefSeq Summary

This gene encodes a member of a subfamily of lipid trafficking proteins that are characterized by a C-terminal steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. ...

Pfam Domains

MENTALaa 47–213UCSCCholesterol-capturing domain
STARTaa 239–444UCSCSTART domain

Gene Aliases

HGNC Name

StAR related lipid transfer domain containing 3

HGNC Alias Symbols

es64; MLN64

Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
12 papers
NM_006804.4
p.R117Q
c.350G>A
3 papers
NM_006804.4
p.R182L
c.545G>T
3 papers
NM_006804.4
p.G216A
c.647G>C
3 papers
NM_006804.4
p.G216A
c.647G>C
3 papers
NM_006804.4
p.R352H
c.1055G>A
2 papers
NM_006804.4
p.L66L
c.198G>A
2 papers
NM_006804.4
p.L72L
c.216G>A
2 papers
NM_006804.4
p.R119Q
c.356G>A
2 papers
NM_006804.4
p.A162T
c.484G>A
2 papers
NM_006804.4
p.A247V
c.740C>T
2 papers
NM_006804.4
p.M307R
c.920T>G
2 papers
NM_006804.4
p.N311D
c.931A>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."