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.L23F

c.69G>T

Surrounding Variants

1 paper

NM_017852.5

p.L23F

c.69G>C

2 papers

NM_017852.5

p.L23*

c.68T>A

1 paper

NM_017852.5

p.D21Y

c.61G>T

5 papers

NM_017852.5

p.F26S

c.77T>C

1 paper

NM_017852.5

p.Q20R

c.59A>G

1 paper

NM_017852.5

p.S19_Q20insFs

c.57_58insG

1 paper

NM_017852.5

p.S19C

c.55A>T

1 paper

NM_017852.5

p.Y28F

c.83A>T

1 paper

NM_017852.5

p.L18L

c.54C>G

1 paper

NM_017852.5

p.L18F

c.52C>T

1 paper

NM_017852.5

p.T31T

c.93G>A

1 paper

NM_017852.5

p.L15M

c.43C>A