Varaico: Literature-Extracted Genetic Variants

Gene:LLGL2
Variant:p.K647N

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.K647N
c.1941G>C
Surrounding Variants
1 paper
NM_001031803.2
p.K647N
c.1941G>T
1 paper
NM_001031803.2
p.R656R
c.1968G>A
1 paper
NM_001031803.2
p.E637K
c.1909G>A
1 paper
NM_001031803.2
p.A635V
c.1904C>T
1 paper
NM_001031803.2
p.S664N
c.1991G>A
2 papers
NM_001031803.2
p.A670delFs
c.2008delG
1 paper
NM_001031803.2
p.V622G
c.1865T>G
1 paper
NM_001031803.2
p.E599_W600delins
c.1796_1799delinsG
1 paper
NM_001031803.2
p.E599ins0
c.1795_1797dupGAG
1 paper
NM_001031803.2
p.V590L
c.1768G>C
1 paper
NM_001031803.2
p.V590L
c.1768G>T
1 paper
NM_001031803.2
p.Q578*
c.1732C>T
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