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.V599M

c.1795G>A

Surrounding Variants

1 paper

NM_017852.5

p.T598M

c.1793C>T

1 paper

NM_017852.5

p.G595R

c.1783G>A

1 paper

NM_017852.5

p.G595R

c.1783G>C

1 paper

NM_017852.5

p.L605L

c.1815C>G

1 paper

NM_017852.5

p.D589N

c.1765G>A

1 paper

NM_017852.5

p.D589Y

c.1765G>T

1 paper

NM_017852.5

p.E614*

c.1840G>T

3 papers

NM_017852.5

p.E616V

c.1847A>T

1 paper

NM_017852.5

p.I581insFs

c.1743dupC

1 paper

NM_017852.5

p.E620K

c.1858G>A

1 paper

NM_017852.5

p.V621M

c.1861G>A

1 paper

NM_017852.5

p.R576Q

c.1727G>A