Varaico: Literature-Extracted Genetic Variants

Gene:LAMTOR2
Variant:p.S50C

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
4 papers
NM_014017.4
p.S50C
c.148A>T
Surrounding Variants
1 paper
NM_014017.4
p.S50R
c.150T>G
1 paper
NM_014017.4
p.N51_I52insC
c.151_155ins3
1 paper
NM_014017.4
p.A49P
c.145G>C
1 paper
NM_014017.4
p.A47D
c.140C>A
1 paper
NM_014017.4
p.A47V
c.140C>T
1 paper
NM_014017.4
p.A47_S50del4
c.139_149del12
1 paper
NM_014017.4
p.W53C
c.159G>C
1 paper
NM_014017.4
p.A55T
c.163G>A
1 paper
NM_014017.4
p.V44D
c.131T>A
1 paper
NM_014017.4
p.R43P
c.128G>C
1 paper
NM_014017.4
p.R43W
c.127C>T
1 paper
NM_014017.4
p.D57A
c.170A>C
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