Varaico: Literature-Extracted Genetic Variants

Gene:NTM
Variant:p.R261S

NTM

111 papers

RefSeq Summary

This gene encodes a member of the IgLON (LAMP, OBCAM, Ntm) family of immunoglobulin (Ig) domain-containing glycosylphosphatidylinositol (GPI)-anchored cell adhesion molecules. The encoded protein may ...

Pfam Domains

I-setaa 36–132UCSCImmunoglobulin I-set domain
Ig_3aa 135–205UCSCImmunoglobulin domain
igaa 229–308UCSCImmunoglobulin domain

Gene Aliases

HGNC Name

neurotrimin

HGNC Alias Symbols

HNT; NTRI; IGLON2; CEPU-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001352005.2
p.R261S
c.783A>C
Surrounding Variants
1 paper
NM_001352005.2
p.R261S
c.783A>T
1 paper
NM_001352005.2
p.Q254*
c.760C>T
1 paper
NM_001352005.2
p.P249S
c.745C>T
2 papers
NM_001352005.2
p.T240I
c.719C>T
1 paper
NM_001352005.2
p.K238T
c.713A>C
1 paper
NM_001352005.2
p.G236E
c.707G>A
1 paper
NM_001352005.2
p.V235L
c.703G>C
1 paper
NM_001352005.2
p.V235L
c.703G>T
1 paper
NM_001352005.2
p.P234L
c.701C>T
1 paper
NM_001352005.2
p.P222L
c.665C>T
1 paper
NM_001352005.2
p.Y221Splc
c.662-1G>A
1 paper
NM_001352005.2
p.R213Q
c.638G>A
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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."