Varaico: Literature-Extracted Genetic Variants

Gene:LAMTOR2
Variant:p.S21N

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.S21N
c.62G>A
Surrounding Variants
1 paper
NM_014017.4
p.T22N
c.65C>A
2 papers
NM_014017.4
p.V19I
c.55G>A
1 paper
NM_014017.4
p.G17_G18insFs
c.51_52insC
1 paper
NM_014017.4
p.T16_G17delFs
c.47_50del4
1 paper
NM_014017.4
p.N15_T16delFs
c.43_46del4
1 paper
NM_014017.4
p.S12delFs
c.35delG
1 paper
NM_014017.4
p.V10V
c.30G>A
2 papers
NM_014017.4
p.Q9*
c.25C>T
2 papers
NM_014017.4
p.T8N
c.23C>A
2 papers
NM_014017.4
p.A6V
c.17C>T
1 paper
NM_014017.4
p.A6S
c.16G>T
1 paper
NM_014017.4
p.K5N
c.15G>C
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