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.H371Y

c.1111C>T

Surrounding Variants

1 paper

NM_017852.5

p.E375K

c.1123G>A

1 paper

NM_017852.5

p.D376insFs

c.1128dupC

4 papers

NM_017852.5

p.R364K

c.1091G>A

1 paper

NM_017852.5

p.A378fs

c.1132_1133fs

8 papers

NM_017852.5

p.D363E

c.1089C>A

2 papers

NM_017852.5

p.D363D

c.1089C>T

1 paper

NM_017852.5

p.M379insFs

c.1135_1136insA

1 paper

NM_017852.5

p.E362Q

c.1084G>C

1 paper

NM_017852.5

p.E362*

c.1084G>T

14 papers

NM_017852.5

p.A381delFs

c.1142delC

2 papers

NM_017852.5

p.F359L

c.1077C>A

2 papers

NM_017852.5

p.F359L

c.1077C>G