Varaico: Literature-Extracted Genetic Variants

Gene:LLGL2
Variant:p.R932W

LLGL2

111 papers

RefSeq Summary

The lethal (2) giant larvae protein of Drosophila plays a role in asymmetric cell division, epithelial cell polarity, and cell migration. This human gene encodes a protein similar to lethal (2) giant ...

Pfam Domains

LLGLaa 271–372UCSCLLGL2
WD40aa 423–451UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

LLGL scribble cell polarity complex component 2

HGNC Alias Symbols

HGL; Hugl-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001031803.2
p.R932W
c.2794C>T
Surrounding Variants
1 paper
NM_001031803.2
p.V929G
c.2786T>G
2 papers
NM_001031803.2
p.R944C
c.2830C>T
1 paper
NM_001031803.2
p.E919K
c.2755G>A
1 paper
NM_001031803.2
p.F918L
c.2754T>A
1 paper
NM_001031803.2
p.F918L
c.2754T>G
1 paper
NM_001031803.2
p.F918L
c.2752T>C
1 paper
NM_001031803.2
p.P955fs
c.2863_2864fs
1 paper
NM_001031803.2
p.P955insFs
c.2864_2865insG
1 paper
NM_001031803.2
p.P955R
c.2864C>G
2 papers
NM_001031803.2
p.R957*
c.2869C>T
1 paper
NM_001031803.2
p.V902I
c.2704G>A
1 paper
NM_001031803.2
p.D894D
c.2682C>T
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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."