Varaico: Literature-Extracted Genetic Variants

Gene:LGI2
Variant:p.I318R

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.I318R
c.953T>G
Surrounding Variants
1 paper
NM_018176.4
p.D317H
c.949G>C
3 papers
NM_018176.4
p.E307K
c.919G>A
1 paper
NM_018176.4
p.E330K
c.988G>A
1 paper
NM_018176.4
p.I302M
c.906T>G
2 papers
NM_018176.4
p.E337K
c.1009G>A
1 paper
NM_018176.4
p.T338M
c.1013C>T
1 paper
NM_018176.4
p.G298S
c.892G>A
2 papers
NM_018176.4
p.K347E
c.1039A>G
1 paper
NM_018176.4
p.G274Splc
c.821-2A>G
1 paper
NM_018176.4
p.S363Y
c.1088C>A
1 paper
NM_018176.4
p.V379I
c.1135G>A
1 paper
NM_018176.4
p.I381I
c.1143C>T
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