Varaico: Literature-Extracted Genetic Variants

Gene:LLGL1
Variant:p.S575S

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.S575S
c.1725C>T
Surrounding Variants
1 paper
NM_004140.4
p.R577H
c.1730G>A
1 paper
NM_004140.4
p.R573W
c.1717C>T
1 paper
NM_004140.4
p.T567A
c.1699A>G
1 paper
NM_004140.4
p.L560F
c.1678C>T
3 papers
NM_004140.4
p.L559F
c.1675C>T
1 paper
NM_004140.4
p.L560_F566del7
c.1678_1697del21
1 paper
NM_004140.4
p.D558insFs
c.1672_1673ins4
1 paper
NM_004140.4
p.V554_R563del10
c.1660_1688del30
1 paper
NM_004140.4
p.A551V
c.1652C>T
1 paper
NM_004140.4
p.E542E
c.1626G>A
1 paper
NM_004140.4
p.E542K
c.1624G>A
1 paper
NM_004140.4
p.W610*
c.1830G>A
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