Varaico: Literature-Extracted Genetic Variants

Gene:LAMTOR2
Variant:p.M1T

LAMTOR2

207 papers

RefSeq Summary

The product of this gene is highly conserved with a mouse protein associated with the cytoplasmic face of late endosomes and lysosomes. The mouse protein interacts with MAPK scaffold protein 1, a comp...

Pfam Domains

Robl_LC7aa 5–95UCSCRoadblock/LC7 domain

Gene Aliases

HGNC Name

late endosomal/lysosomal adaptor, MAPK and MTOR activator 2

HGNC Previous Symbol

ROBLD3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014017.4
p.M1T
c.2T>C
Surrounding Variants
1 paper
NM_014017.4
p.M1K
c.2T>A
1 paper
NM_014017.4
p.M1I
c.3G>A
1 paper
NM_014017.4
p.R3insFs
c.8dupG
1 paper
NM_014017.4
p.R3R
c.9C>T
1 paper
NM_014017.4
p.P4S
c.10C>T
1 paper
NM_014017.4
p.K5N
c.15G>C
1 paper
NM_014017.4
p.A6S
c.16G>T
2 papers
NM_014017.4
p.A6V
c.17C>T
2 papers
NM_014017.4
p.T8N
c.23C>A
2 papers
NM_014017.4
p.Q9*
c.25C>T
1 paper
NM_014017.4
p.V10V
c.30G>A
1 paper
NM_014017.4
p.S12delFs
c.35delG
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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."