Varaico: Literature-Extracted Genetic Variants

NLRP12

334 papers

RefSeq Summary

This gene encodes a member of the CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminu...

Pfam Domains

PYRINaa 12–87UCSCPAAD/DAPIN/Pyrin domain

FISNAaa 129–201UCSCFish-specific NACHT associated domain

NACHTaa 211–381UCSCNACHT domain

WHD_NOD2aa 459–512UCSCNOD2 winged helix domain

NLRC4_HD2aa 514–628UCSCNLRC4 helical domain HD2

LRR_6aa 768–791UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

NLR family pyrin domain containing 12

HGNC Previous Symbol

NALP12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_144687.4

p.G420_Q426del7

c.1258_1277del21

Surrounding Variants

1 paper

NM_144687.4

p.T427A

c.1279A>G

1 paper

NM_144687.4

p.T427T

c.1281G>A

1 paper

NM_144687.4

p.R429K

c.1286G>A

2 papers

NM_144687.4

p.G422R

c.1264G>C

2 papers

NM_144687.4

p.G422R

c.1264G>A

1 paper

NM_144687.4

p.A433V

c.1298C>T

1 paper

NM_144687.4

p.G420D

c.1259G>A

1 paper

NM_144687.4

p.Q417L

c.1250A>T

1 paper

NM_144687.4

p.L439P

c.1316T>C

3 papers

NM_144687.4

p.L439Q

c.1316T>A

1 paper

NM_144687.4

p.Q444E

c.1330C>G

11 papers

NM_144687.4

p.W408*

c.1224G>A