Varaico: Literature-Extracted Genetic Variants

Gene:LLGL2
Variant:p.R45H

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
4 papers
NM_001031803.2
p.R45H
c.134G>A
Surrounding Variants
1 paper
NM_001031803.2
p.R52S
c.154C>A
1 paper
NM_001031803.2
p.R52H
c.155G>A
1 paper
NM_001031803.2
p.A37A
c.111C>A
1 paper
NM_001031803.2
p.G60_A61delins
c.180_181delinsAA
1 paper
NM_001031803.2
p.P123fs
c.367_368fs
1 paper
NM_001031803.2
p.L158V
c.472C>G
1 paper
NM_001031803.2
p.R162H
c.485G>A
1 paper
NM_001031803.2
p.E165D
c.495G>C
1 paper
NM_001031803.2
p.E165D
c.495G>T
1 paper
NM_001031803.2
p.R167Q
c.500G>A
1 paper
NM_001031803.2
p.A173T
c.517G>A
1 paper
NM_001031803.2
p.R177W
c.529C>T
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