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.D479N

c.1435G>A

Surrounding Variants

2 papers

NM_017852.5

p.V475V

c.1425G>A

1 paper

NM_017852.5

p.V475_S478del4

c.1423_1433del12

1 paper

NM_017852.5

p.G474R

c.1420G>A

1 paper

NM_017852.5

p.D485D

c.1455C>T

1 paper

NM_017852.5

p.E471_R472delFs

c.1411_1414del4

1 paper

NM_017852.5

p.D469N

c.1405G>A

1 paper

NM_017852.5

p.D469Y

c.1405G>T

1 paper

NM_017852.5

p.E468G

c.1403A>G

5 papers

NM_017852.5

p.R490C

c.1468C>T

1 paper

NM_017852.5

p.R490H

c.1469G>A

3 papers

NM_017852.5

p.D492N

c.1474G>A

1 paper

NM_017852.5

p.D492_R493insGA

c.1474_1478ins6