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.V2V

c.6G>T

Surrounding Variants

2 papers

NM_017852.5

p.S3fs

c.7_8fs

1 paper

NM_017852.5

p.S4insFs

c.10dupT

1 paper

NM_017852.5

p.S3delFs

c.9delT

1 paper

NM_017852.5

p.V2M

c.4G>A

1 paper

NM_017852.5

p.V2L

c.4G>C

1 paper

NM_017852.5

p.V2insFs

c.5dupT

1 paper

NM_017852.5

p.M1I

c.3G>A

2 papers

NM_017852.5

p.M1I

c.3G>T

1 paper

NM_017852.5

p.M1T

c.2T>C

1 paper

NM_017852.5

p.S4P

c.10T>C

1 paper

NM_017852.5

p.S4delins

c.10_12delinsCTT

6 papers

NM_017852.5

p.M1insFs

c.2_3insT