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.K409insFs

c.1225dupA

Surrounding Variants

3 papers

NM_017852.5

p.T406R

c.1217C>G

1 paper

NM_017852.5

p.Q411fs

c.1231_1232fs

1 paper

NM_017852.5

p.C405insFs

c.1214_1215insT

1 paper

NM_017852.5

p.G415G

c.1245G>A

1 paper

NM_017852.5

p.D417N

c.1249G>A

1 paper

NM_017852.5

p.D417G

c.1250A>G

1 paper

NM_017852.5

p.P398L

c.1193C>T

1 paper

NM_017852.5

p.L423L

c.1269C>T

1 paper

NM_017852.5

p.G427insFs

c.1281dupG

1 paper

NM_017852.5

p.L428P

c.1283T>C

1 paper

NM_017852.5

p.F429_L430delFs

c.1286_1289del4

1 paper

NM_017852.5

p.N388T

c.1163A>C