Varaico: Literature-Extracted Genetic Variants

Gene:LLGL1
Variant:p.R190H

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.R190H
c.569G>A
Surrounding Variants
1 paper
NM_004140.4
p.D187G
c.560A>G
1 paper
NM_004140.4
p.V185_D188delFs
c.554_563del10
1 paper
NM_004140.4
p.G203*
c.607G>T
1 paper
NM_004140.4
p.G218insFs
c.654dupC
1 paper
NM_004140.4
p.V221I
c.661G>A
1 paper
NM_004140.4
p.S184C
c.550A>T
1 paper
NM_004140.4
p.R183H
c.548G>A
1 paper
NM_004140.4
p.R183C
c.547C>T
1 paper
NM_004140.4
p.C229fs
c.685_686fs
1 paper
NM_004140.4
p.E156delFs
c.468delG
1 paper
NM_004140.4
p.G154S
c.460G>A
1 paper
NM_004140.4
p.G154_T155del2
c.460_464del6
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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."