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.D48E

c.144C>A

Surrounding Variants

1 paper

NM_017852.5

p.D48E

c.144C>G

1 paper

NM_017852.5

p.D48A

c.143A>C

1 paper

NM_017852.5

p.D48G

c.143A>G

1 paper

NM_017852.5

p.D51N

c.151G>A

1 paper

NM_017852.5

p.D51A

c.152A>C

2 papers

NM_017852.5

p.K45N

c.135G>C

1 paper

NM_017852.5

p.D51E

c.153T>A

1 paper

NM_017852.5

p.D51E

c.153T>G

1 paper

NM_017852.5

p.G52_K53delFs

c.156_157delGA

1 paper

NM_017852.5

p.K53*

c.157A>T

1 paper

NM_017852.5

p.P43R

c.128C>G

1 paper

NM_017852.5

p.I42_P43insFs

c.126_127insAA