Varaico: Literature-Extracted Genetic Variants

Gene:LLGL2
Variant:p.R467R

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.R467R
c.1401C>T
Surrounding Variants
1 paper
NM_001031803.2
p.D472N
c.1414G>A
4 papers
NM_001031803.2
p.F479L
c.1435T>C
4 papers
NM_001031803.2
p.F479L
c.1437C>A
4 papers
NM_001031803.2
p.F479L
c.1437C>G
2 papers
NM_001031803.2
p.S480N
c.1439G>A
1 paper
NM_001031803.2
p.R491C
c.1471C>T
1 paper
NM_001031803.2
p.R491H
c.1472G>A
1 paper
NM_001031803.2
p.H442Q
c.1326C>A
1 paper
NM_001031803.2
p.H442Q
c.1326C>G
1 paper
NM_001031803.2
p.M418T
c.1253T>C
1 paper
NM_001031803.2
p.Q411H
c.1233G>C
1 paper
NM_001031803.2
p.Q411H
c.1233G>T
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