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.Q508H

c.1524G>T

Surrounding Variants

1 paper

NM_017852.5

p.Q507H

c.1521G>C

1 paper

NM_017852.5

p.Q507H

c.1521G>T

1 paper

NM_017852.5

p.T516delFs

c.1546delA

2 papers

NM_017852.5

p.T516A

c.1546A>G

1 paper

NM_017852.5

p.Y499_S500ins0

c.1496_1498dupACT

1 paper

NM_017852.5

p.K496R

c.1487A>G

1 paper

NM_017852.5

p.S495S

c.1485C>T

1 paper

NM_017852.5

p.E522_E523del1

c.1566_1568delAGA

1 paper

NM_017852.5

p.E522K

c.1564G>A

1 paper

NM_017852.5

p.E522Q

c.1564G>C

1 paper

NM_017852.5

p.S495A

c.1483T>G

1 paper

NM_017852.5

p.E523del1

c.1567_1568delGAG