Varaico: Literature-Extracted Genetic Variants

Gene:STARD3NL

STARD3NL

17 papers

RefSeq Summary

This gene encodes a late-endosomal protein that contains a conserved MENTAL (MLN64 N-terminal) domain. The encoded protein binds cholesterol molecules and may play a role in endosomal cholesterol tran...

Pfam Domains

MENTALaa 49–132UCSCCholesterol-capturing domain
MENTALaa 129–196UCSCCholesterol-capturing domain

Gene Aliases

HGNC Name

STARD3 N-terminal like

HGNC Alias Symbols

MENTHO; MGC3251

Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
2 papers
NM_032016.4
p.A11T
c.31G>A
1 paper
NM_032016.4
p.M34L
c.100A>C
1 paper
NM_032016.4
p.M34L
c.100A>T
1 paper
NM_032016.4
p.I72L
c.214A>T
1 paper
NM_032016.4
p.N75_V76Splc
c.226-1G>A
1 paper
NM_032016.4
p.E81V
c.242A>T
1 paper
NM_032016.4
p.N82K
c.246C>A
1 paper
NM_032016.4
p.N82K
c.246C>G
1 paper
NM_032016.4
p.R121C
c.361C>T
1 paper
NM_032016.4
p.W169*
c.506G>A
1 paper
NM_032016.4
p.W169*
c.507G>A
1 paper
NM_032016.4
p.I188V
c.562A>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."