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.K312N

c.936G>C

Surrounding Variants

1 paper

NM_017852.5

p.K312N

c.936G>T

1 paper

NM_017852.5

p.P313L

c.938C>T

1 paper

NM_017852.5

p.K311K

c.933G>A

1 paper

NM_017852.5

p.V314M

c.940G>A

1 paper

NM_017852.5

p.V316A

c.947T>C

1 paper

NM_017852.5

p.L317_L318del2

c.949_953del6

1 paper

NM_017852.5

p.L317F

c.949C>T

1 paper

NM_017852.5

p.L317H

c.950T>A

1 paper

NM_017852.5

p.L318L

c.952C>T

1 paper

NM_017852.5

p.D307Y

c.919G>T

1 paper

NM_017852.5

p.L318Q

c.953T>A

1 paper

NM_017852.5

p.G319E

c.956G>A