Varaico: Literature-Extracted Genetic Variants

Gene:LGI2
Variant:p.C42R

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
3 papers
NM_018176.4
p.C42R
c.124T>C
Surrounding Variants
2 papers
NM_018176.4
p.C42G
c.124T>G
1 paper
NM_018176.4
p.T39S
c.116C>G
1 paper
NM_018176.4
p.T39S
c.115A>T
1 paper
NM_018176.4
p.V50A
c.149T>C
2 papers
NM_018176.4
p.S52_W54del3
c.154_161del9
1 paper
NM_018176.4
p.R26W
c.76C>T
2 papers
NM_018176.4
p.I24T
c.71T>C
3 papers
NM_018176.4
p.G61S
c.181G>A
3 papers
NM_018176.4
p.L18del1
c.52_53delCAG
1 paper
NM_018176.4
p.S65F
c.194C>T
1 paper
NM_018176.4
p.A10T
c.28G>A
1 paper
NM_018176.4
p.G9*
c.25G>T
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