Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

1 paper

NM_017852.5

p.E676*

c.2026G>T

Surrounding Variants

1 paper

NM_017852.5

p.E670_S671delFs

c.2010_2011delAT

2 papers

NM_017852.5

p.E670fs

c.2008_2009fs

1 paper

NM_017852.5

p.S669delFs

c.2006delC

1 paper

NM_017852.5

p.T667T

c.2001T>A

1 paper

NM_017852.5

p.P663_N665delFs

c.1989_1993del5

1 paper

NM_017852.5

p.E660insFs

c.1978dupG

1 paper

NM_017852.5

p.I658V

c.1972A>G

1 paper

NM_017852.5

p.V657_I658insFs

c.1971_1972insT

7 papers

NM_017852.5

p.V657_N661del5

c.1969_1982del15

1 paper

NM_017852.5

p.R677Splc

c.2030+57T>A

7 papers

NM_017852.5

p.S654*

c.1961C>A

7 papers

NM_017852.5

p.S654*

c.1961C>G