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.L84V

c.250C>G

Surrounding Variants

1 paper

NM_017852.5

p.R81*

c.241C>T

1 paper

NM_017852.5

p.A88P

c.262G>C

1 paper

NM_017852.5

p.K78R

c.233A>G

1 paper

NM_017852.5

p.D90H

c.268G>C

1 paper

NM_017852.5

p.Q74H

c.222G>T

4 papers

NM_017852.5

p.E94Splc

c.280+1G>A

1 paper

NM_017852.5

p.E94Splc

c.280+2T>C

1 paper

NM_017852.5

p.E94Splc

c.280+2T>G

1 paper

NM_017852.5

p.S72C

c.214A>T

1 paper

NM_017852.5

p.E69D

c.207G>C

1 paper

NM_017852.5

p.E69D

c.207G>T

1 paper

NM_017852.5

p.V68M

c.202G>A