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.D157Y

c.469G>T

Surrounding Variants

1 paper

NM_017852.5

p.D157V

c.470A>T

2 papers

NM_017852.5

p.K156E

c.466A>G

1 paper

NM_017852.5

p.R159_C160delFs

c.475_478del4

1 paper

NM_017852.5

p.R159W

c.475A>T

1 paper

NM_017852.5

p.K156_D157del2

c.466_470del6

1 paper

NM_017852.5

p.Y162*

c.486T>A

1 paper

NM_017852.5

p.L164_K165insFs

c.492_493insGA

1 paper

NM_017852.5

p.K167R

c.500A>G

2 papers

NM_017852.5

p.R169W

c.505C>T

7 papers

NM_017852.5

p.M171V

c.511A>G

1 paper

NM_017852.5

p.W175R

c.523T>A

1 paper

NM_017852.5

p.W175R

c.523T>C