Varaico: Literature-Extracted Genetic Variants

Gene:LRRTM2
Variant:p.E249D

LRRTM2

34 papers

Pfam Domains

LRR_8aa 65–121UCSCLeucine rich repeat
LRR_8aa 133–193UCSCLeucine rich repeat
LRR_8aa 186–241UCSCLeucine rich repeat
LRR_8aa 253–312UCSCLeucine rich repeat

Gene Aliases

HGNC Name

leucine rich repeat transmembrane neuronal 2

HGNC Alias Symbol

KIAA0416

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015564.3
p.E249D
c.747G>T
Surrounding Variants
1 paper
NM_015564.3
p.E249D
c.747G>C
1 paper
NM_015564.3
p.G253S
c.757G>A
2 papers
NM_015564.3
p.D259A
c.776A>C
2 papers
NM_015564.3
p.T261A
c.781A>G
1 paper
NM_015564.3
p.L270M
c.808T>A
1 paper
NM_015564.3
p.I220N
c.659T>A
1 paper
NM_015564.3
p.T218M
c.653C>T
1 paper
NM_015564.3
p.L282F
c.844C>T
1 paper
NM_015564.3
p.L186_L193del8
c.556_578del24
2 papers
NM_015564.3
p.R318*
c.952C>T
1 paper
NM_015564.3
p.L169M
c.505C>A
2 papers
NM_015564.3
p.S168S
c.504C>A
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