Varaico: Literature-Extracted Genetic Variants

Gene:TREM2
Variant:p.K48M

TREM2

845 papers

RefSeq Summary

This gene encodes a membrane protein that forms a receptor signaling complex with the TYRO protein tyrosine kinase binding protein. The encoded protein functions in immune response and may be involved...

Pfam Domains

V-setaa 19–129UCSCImmunoglobulin V-set domain

Gene Aliases

HGNC Name

triggering receptor expressed on myeloid cells 2

HGNC Alias Symbols

TREM-2; Trem2a; Trem2b; Trem2c

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018965.4
p.K48M
c.143A>T
Surrounding Variants
3 papers
NM_018965.4
p.A49S
c.145G>T
1 paper
NM_018965.4
p.A49P
c.145G>C
1 paper
NM_018965.4
p.A49T
c.145G>A
3 papers
NM_018965.4
p.R47L
c.140G>T
651 papers
NM_018965.4
p.R47H
c.140G>A
14 papers
NM_018965.4
p.R47C
c.139C>T
1 paper
NM_018965.4
p.R47G
c.139C>G
1 paper
NM_018965.4
p.W50S
c.149G>C
1 paper
NM_018965.4
p.R46T
c.137G>C
22 papers
NM_018965.4
p.W50C
c.150G>T
22 papers
NM_018965.4
p.W50C
c.150G>C
6 papers
NM_018965.4
p.C51Y
c.152G>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."