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.S557Y

c.1670C>A

Surrounding Variants

1 paper

NM_017852.5

p.S557P

c.1669T>C

1 paper

NM_017852.5

p.F558F

c.1674T>C

1 paper

NM_017852.5

p.Y555insFs

c.1663dupT

1 paper

NM_017852.5

p.A561T

c.1681G>A

1 paper

NM_017852.5

p.D549E

c.1647C>A

1 paper

NM_017852.5

p.D549E

c.1647C>G

1 paper

NM_017852.5

p.A566G

c.1697C>G

1 paper

NM_017852.5

p.P548S

c.1642C>T

2 papers

NM_017852.5

p.K567E

c.1699A>G

1 paper

NM_017852.5

p.R546G

c.1636A>G

1 paper

NM_017852.5

p.R546_N547del2

c.1636_1640del6

1 paper

NM_017852.5

p.E543K

c.1627G>A