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

2 papers

NM_017852.5

p.L35L

c.103C>T

Surrounding Variants

2 papers

NM_017852.5

p.F33C

c.98T>G

1 paper

NM_017852.5

p.H37Y

c.109C>T

1 paper

NM_017852.5

p.H37R

c.110A>G

1 paper

NM_017852.5

p.E38_Q40del3

c.112_119del9

1 paper

NM_017852.5

p.E38K

c.112G>A

1 paper

NM_017852.5

p.T31T

c.93G>A

1 paper

NM_017852.5

p.Q40*

c.118C>T

1 paper

NM_017852.5

p.Q40P

c.119A>C

1 paper

NM_017852.5

p.Y28F

c.83A>T

1 paper

NM_017852.5

p.I42insFs

c.126dupC

1 paper

NM_017852.5

p.I42_P43insFs

c.126_127insAA

1 paper

NM_017852.5

p.P43R

c.128C>G