Varaico: Literature-Extracted Genetic Variants

Gene:LGI2
Variant:p.L434P

LGI2

60 papers

Pfam Domains

LRR_8aa 62–121UCSCLeucine rich repeat
LRR_8aa 109–169UCSCLeucine rich repeat
EPTPaa 219–260UCSCEPTP domain
EPTPaa 265–306UCSCEPTP domain
EPTPaa 311–357UCSCEPTP domain
EPTPaa 360–402UCSCEPTP domain

Gene Aliases

HGNC Name

leucine rich repeat LGI family member 2

HGNC Alias Symbols

KIAA1916; FLJ10675

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018176.4
p.L434P
c.1301T>C
Surrounding Variants
1 paper
NM_018176.4
p.L432H
c.1295T>A
1 paper
NM_018176.4
p.R444W
c.1330C>T
2 papers
NM_018176.4
p.R444Q
c.1331G>A
1 paper
NM_018176.4
p.V420E
c.1259T>A
1 paper
NM_018176.4
p.W448*
c.1343G>A
1 paper
NM_018176.4
p.W448*
c.1344G>A
4 papers
NM_018176.4
p.Q452R
c.1355A>G
1 paper
NM_018176.4
p.S461F
c.1382C>T
1 paper
NM_018176.4
p.S393F
c.1178C>T
1 paper
NM_018176.4
p.R392C
c.1174C>T
1 paper
NM_018176.4
p.I381I
c.1143C>T
1 paper
NM_018176.4
p.V379I
c.1135G>A
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