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.G109V

c.326G>T

Surrounding Variants

1 paper

NM_017852.5

p.G109Splc

c.326-1G>T

6 papers

NM_017852.5

p.R115*

c.343C>T

1 paper

NM_017852.5

p.P116insFs

c.347_348insT

1 paper

NM_017852.5

p.P116P

c.348A>T

2 papers

NM_017852.5

p.L118I

c.352C>A

1 paper

NM_017852.5

p.D119V

c.356A>T

1 paper

NM_017852.5

p.V120L

c.358G>C

1 paper

NM_017852.5

p.V120L

c.358G>T

1 paper

NM_017852.5

p.D121N

c.361G>A

1 paper

NM_017852.5

p.D121A

c.362A>C

2 papers

NM_017852.5

p.D121G

c.362A>G

1 paper

NM_017852.5

p.L124delFs

c.372delG