Varaico: Literature-Extracted Genetic Variants

Gene:LAMTOR3

LAMTOR3

31 papers

RefSeq Summary

This gene encodes a scaffold protein that functions in the extracellular signal-regulated kinase (ERK) cascade. The protein is localized to late endosomes by the mitogen-activated protein-binding prot...

Pfam Domains

MAPKK1_Intaa 3–121UCSCMitogen-activated protein kinase kinase 1 interacting

Gene Aliases

HGNC Name

late endosomal/lysosomal adaptor, MAPK and MTOR activator 3

HGNC Previous Symbols

MAP2K1IP1; MAPKSP1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
1 paper
NM_021970.4
p.D4E
c.12C>A
1 paper
NM_021970.4
p.L5Q
c.14T>A
1 paper
NM_021970.4
p.K12N
c.36G>C
1 paper
NM_021970.4
p.L13*
c.38T>A
1 paper
NM_021970.4
p.G18G
c.54G>A
1 paper
NM_021970.4
p.E42A
c.125A>C
1 paper
NM_021970.4
p.D58A
c.173A>C
1 paper
NM_021970.4
p.Y74F
c.221A>T
1 paper
NM_021970.4
p.Y74C
c.221A>G
1 paper
NM_021970.4
p.Q79*
c.235C>T
1 paper
NM_021970.4
p.P87T
c.259C>A
1 paper
NM_021970.4
p.S97R
c.289A>C
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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."