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.I236insFs

c.707dupT

Surrounding Variants

1 paper

NM_017852.5

p.A242insFs

c.725_726insTG

1 paper

NM_017852.5

p.A242A

c.726G>A

1 paper

NM_017852.5

p.F243L

c.727T>C

1 paper

NM_017852.5

p.F243F

c.729C>T

1 paper

NM_017852.5

p.L245P

c.734T>C

1 paper

NM_017852.5

p.L245L

c.735C>T

1 paper

NM_017852.5

p.Q224Q

c.672G>A

3 papers

NM_017852.5

p.R248insFs

c.742_743insGG

1 paper

NM_017852.5

p.R248G

c.742A>G

4 papers

NM_017852.5

p.R248W

c.742A>T

1 paper

NM_017852.5

p.R248K

c.743G>A

1 paper

NM_017852.5

p.L250F

c.748C>T