Varaico: Literature-Extracted Genetic Variants

Gene:LAMTOR2
Variant:p.S30*

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.S30*
c.89C>G
Surrounding Variants
1 paper
NM_014017.4
p.G29insFs
c.86_87insA
1 paper
NM_014017.4
p.L32_A33ins0
c.94_99dup6
1 paper
NM_014017.4
p.E28delFs
c.82delG
1 paper
NM_014017.4
p.L23Splc
c.69-4C>G
1 paper
NM_014017.4
p.D41A
c.122A>C
1 paper
NM_014017.4
p.R43W
c.127C>T
1 paper
NM_014017.4
p.R43P
c.128G>C
1 paper
NM_014017.4
p.V44D
c.131T>A
1 paper
NM_014017.4
p.A47_S50del4
c.139_149del12
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.L23Splc
c.69-36C>T
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