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.Y212fs

c.634_635fs

Surrounding Variants

1 paper

NM_017852.5

p.L211insFs

c.632dupT

1 paper

NM_017852.5

p.V210V

c.630G>C

3 papers

NM_017852.5

p.V210L

c.628G>T

1 paper

NM_017852.5

p.P214_A215insFs

c.642_643insTC

1 paper

NM_017852.5

p.V209M

c.625G>A

1 paper

NM_017852.5

p.A215S

c.643G>T

1 paper

NM_017852.5

p.T208S

c.622A>T

2 papers

NM_017852.5

p.K219fs

c.655_656fs

2 papers

NM_017852.5

p.K219fs

c.655_656fs

14 papers

NM_017852.5

p.K219_T221delFs

c.657_661del5

1 paper

NM_017852.5

p.K219T

c.656A>C

1 paper

NM_017852.5

p.K219N

c.657A>C