Varaico: Literature-Extracted Genetic Variants

Gene:LGI3

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
1–12 of 100 variants
3 papers
NM_139278.4
p.D331N
c.991G>A
2 papers
NM_139278.4
p.L117F
c.349C>T
2 papers
NM_139278.4
p.A248V
c.743C>T
2 papers
NM_139278.4
p.R375H
c.1124G>A
2 papers
NM_139278.4
p.R430G
c.1288C>G
2 papers
NM_139278.4
p.S457L
c.1370C>T
2 papers
NM_139278.4
p.Q460L
c.1379A>T
2 papers
NM_139278.4
p.R514Q
c.1541G>A
1 paper
NM_139278.4
p.A2V
c.5C>T
1 paper
NM_139278.4
p.R7S
c.21G>T
1 paper
NM_139278.4
p.R7S
c.21G>C
1 paper
NM_139278.4
p.T46I
c.137C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."