Varaico: Literature-Extracted Genetic Variants

Gene:LLGL1
Variant:p.G284Splc

LLGL1

155 papers

RefSeq Summary

This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle myosin II heavy chain and a kinase that ...

Pfam Domains

LLGLaa 279–380UCSCLLGL2

Gene Aliases

HGNC Name

LLGL scribble cell polarity complex component 1

HGNC Previous Symbols

HUGL; HUGL-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004140.4
p.G284Splc
c.851-2A>G
Surrounding Variants
1 paper
NM_004140.4
p.G303S
c.907G>A
1 paper
NM_004140.4
p.G303R
c.907G>C
1 paper
NM_004140.4
p.H304Y
c.910C>T
1 paper
NM_004140.4
p.Y283Y
c.849C>T
1 paper
NM_004140.4
p.Y261H
c.781T>C
1 paper
NM_004140.4
p.T251A
c.751A>G
1 paper
NM_004140.4
p.W245C
c.735G>T
1 paper
NM_004140.4
p.E241K
c.721G>A
1 paper
NM_004140.4
p.E354delFs
c.1061delA
1 paper
NM_004140.4
p.D356G
c.1067A>G
3 papers
NM_004140.4
p.D373D
c.1119C>T
1 paper
NM_004140.4
p.C229fs
c.685_686fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."