Varaico: Literature-Extracted Genetic Variants

Gene:NLRP2

NLRP2

616 papers

RefSeq Summary

This gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-bin...

Pfam Domains

PYRINaa 10–86UCSCPAAD/DAPIN/Pyrin domain
NACHTaa 207–375UCSCNACHT domain
WHD_NOD2aa 445–501UCSCNOD2 winged helix domain
NLRC4_HD2aa 503–620UCSCNLRC4 helical domain HD2
LRR_6aa 809–831UCSCLeucine Rich repeat
LRR_6aa 923–946UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

NLR family pyrin domain containing 2

HGNC Previous Symbol

NALP2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 495 variants
14 papers
NM_017852.5
p.K219_T221delFs
c.657_661del5
14 papers
NM_017852.5
p.A381delFs
c.1142delC
8 papers
NM_017852.5
p.R281insFs
c.842_843insT
8 papers
NM_017852.5
p.D363E
c.1089C>A
7 papers
NM_017852.5
p.S4L
c.11C>T
7 papers
NM_017852.5
p.M171V
c.511A>G
7 papers
NM_017852.5
p.T221M
c.662C>T
7 papers
NM_017852.5
p.S654*
c.1961C>A
7 papers
NM_017852.5
p.S654*
c.1961C>G
7 papers
NM_017852.5
p.V657_N661del5
c.1969_1982del15
6 papers
NM_017852.5
p.M1insFs
c.2_3insT
6 papers
NM_017852.5
p.R115*
c.343C>T
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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."