Varaico: Literature-Extracted Genetic Variants

Gene:LAMTOR1
Variant:p.P125L

LAMTOR1

133 papers

Pfam Domains

LAMTORaa 16–85UCSCLate endosomal/lysosomal adaptor and MAPK and MTOR activator

Gene Aliases

HGNC Name

late endosomal/lysosomal adaptor, MAPK and MTOR activator 1

HGNC Previous Symbol

C11orf59

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_017907.3
p.P125L
c.374C>T
Surrounding Variants
1 paper
NM_017907.3
p.P125P
c.375G>C
1 paper
NM_017907.3
p.I124T
c.371T>C
1 paper
NM_017907.3
p.L129F
c.387G>T
1 paper
NM_017907.3
p.L129F
c.387G>C
1 paper
NM_017907.3
p.L119R
c.356T>G
1 paper
NM_017907.3
p.Q131delFs
c.393delC
1 paper
NM_017907.3
p.L108L
c.324G>A
1 paper
NM_017907.3
p.W102L
c.305G>T
1 paper
NM_017907.3
p.W102*
c.305G>A
1 paper
NM_017907.3
p.S96R
c.286A>C
1 paper
NM_017907.3
p.L95L
c.283C>T
1 paper
NM_017907.3
p.Q131_V132Splc
c.394-17G>C
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