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.R342R

c.1026G>A

Surrounding Variants

1 paper

NM_017852.5

p.R342K

c.1025G>A

1 paper

NM_017852.5

p.D343D

c.1029C>T

1 paper

NM_017852.5

p.P338L

c.1013C>T

1 paper

NM_017852.5

p.P338S

c.1012C>T

1 paper

NM_017852.5

p.L347P

c.1040T>C

1 paper

NM_017852.5

p.L347_A348delins

c.1041_1044delinsT

2 papers

NM_017852.5

p.R337Q

c.1010G>A

1 paper

NM_017852.5

p.A348T

c.1042G>A

1 paper

NM_017852.5

p.T336P

c.1006A>C

1 paper

NM_017852.5

p.E349G

c.1046A>G

4 papers

NM_017852.5

p.I352S

c.1055T>G

1 paper

NM_017852.5

p.I352I

c.1056C>T