Varaico: Literature-Extracted Genetic Variants

Gene:LGI3
Variant:p.Q525H

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
1 paper
NM_139278.4
p.Q525H
c.1575G>T
Surrounding Variants
1 paper
NM_139278.4
p.Q525H
c.1575G>C
1 paper
NM_139278.4
p.P530H
c.1589C>A
1 paper
NM_139278.4
p.S531C
c.1591A>T
2 papers
NM_139278.4
p.R514Q
c.1541G>A
1 paper
NM_139278.4
p.R514W
c.1540C>T
1 paper
NM_139278.4
p.Y539N
c.1615T>A
1 paper
NM_139278.4
p.H541R
c.1622A>G
1 paper
NM_139278.4
p.E507*
c.1519G>T
1 paper
NM_139278.4
p.Q506*
c.1516C>T
1 paper
NM_139278.4
p.S547insFs
c.1639_1640insA
1 paper
NM_139278.4
p.R504W
c.1510C>T
1 paper
NM_139278.4
p.A548S
c.1642G>T
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