Varaico: Literature-Extracted Genetic Variants

Gene:STARD3
Variant:p.L72L

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
Selected Variant
2 papers
NM_006804.4
p.L72L
c.216G>A
Surrounding Variants
1 paper
NM_006804.4
p.E71K
c.211G>A
2 papers
NM_006804.4
p.L66L
c.198G>A
1 paper
NM_006804.4
p.L66L
c.196C>T
1 paper
NM_006804.4
p.V57I
c.169G>A
1 paper
NM_006804.4
p.D48A
c.143A>C
1 paper
NM_006804.4
p.I46F
c.136A>T
1 paper
NM_006804.4
p.A45T
c.133G>A
1 paper
NM_006804.4
p.L4M
c.10C>A
1 paper
NM_006804.4
p.N81K
c.243C>A
1 paper
NM_006804.4
p.N81K
c.243C>G
1 paper
NM_006804.4
p.Q84K
c.250C>A
1 paper
NM_006804.4
p.R105H
c.314G>A
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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."