Varaico: Literature-Extracted Genetic Variants

Gene:LAMTOR1

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
1–12 of 53 variants
3 papers
NM_017907.3
p.L33R
c.98T>G
3 papers
NM_017907.3
p.P125L
c.374C>T
2 papers
NM_017907.3
p.K20R
c.59A>G
2 papers
NM_017907.3
p.P25L
c.74C>T
2 papers
NM_017907.3
p.D49A
c.146A>C
1 paper
NM_017907.3
p.N9I
c.26A>T
1 paper
NM_017907.3
p.Q14*
c.40C>T
1 paper
NM_017907.3
p.D15insFs
c.44dupA
1 paper
NM_017907.3
p.E17*
c.49G>T
1 paper
NM_017907.3
p.E17K
c.49G>A
1 paper
NM_017907.3
p.L21L
c.63G>A
1 paper
NM_017907.3
p.D24G
c.71A>G
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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."