Varaico: Literature-Extracted Genetic Variants

Gene:LGI3
Variant:p.A248V

LGI3

46 papers

Pfam Domains

LRR_8aa 64–124UCSCLeucine rich repeat
LRR_8aa 113–172UCSCLeucine rich repeat
EPTPaa 222–263UCSCEPTP domain
EPTPaa 268–309UCSCEPTP domain
EPTPaa 314–360UCSCEPTP domain
EPTPaa 363–405UCSCEPTP domain

Gene Aliases

HGNC Name

leucine rich repeat LGI family member 3

HGNC Previous Name

leucine-rich repeat LGI family, member 3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_139278.4
p.A248V
c.743C>T
Surrounding Variants
1 paper
NM_139278.4
p.A248P
c.742G>C
1 paper
NM_139278.4
p.Y246C
c.737A>G
1 paper
NM_139278.4
p.S242F
c.725C>T
1 paper
NM_139278.4
p.A256D
c.767C>A
1 paper
NM_139278.4
p.S255_C257del3
c.763_770del9
1 paper
NM_139278.4
p.E237*
c.709G>T
1 paper
NM_139278.4
p.F223V
c.667T>G
1 paper
NM_139278.4
p.P276T
c.826C>A
1 paper
NM_139278.4
p.E215G
c.644A>G
1 paper
NM_139278.4
p.R214W
c.640C>T
1 paper
NM_139278.4
p.D210A
c.629A>C
1 paper
NM_139278.4
p.R202C
c.604C>T
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