Varaico: Literature-Extracted Genetic Variants

Gene:LLGL1
Variant:p.D373D

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
3 papers
NM_004140.4
p.D373D
c.1119C>T
Surrounding Variants
2 papers
NM_004140.4
p.Q375R
c.1124A>G
1 paper
NM_004140.4
p.G378A
c.1133G>C
1 paper
NM_004140.4
p.P383_P385delFs
c.1147_1154del8
1 paper
NM_004140.4
p.A388D
c.1163C>A
1 paper
NM_004140.4
p.D356G
c.1067A>G
1 paper
NM_004140.4
p.E354delFs
c.1061delA
1 paper
NM_004140.4
p.A394V
c.1181C>T
1 paper
NM_004140.4
p.V401M
c.1201G>A
1 paper
NM_004140.4
p.V404I
c.1210G>A
4 papers
NM_004140.4
p.R411C
c.1231C>T
1 paper
NM_004140.4
p.I412T
c.1235T>C
1 paper
NM_004140.4
p.H304Y
c.910C>T
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