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.Y390Y

c.1170C>T

Surrounding Variants

1 paper

NM_144687.4

p.Y390*

c.1170C>G

1 paper

NM_144687.4

p.Y390*

c.1170C>A

1 paper

NM_144687.4

p.N394H

c.1180A>C

2 papers

NM_144687.4

p.N394K

c.1182C>G

2 papers

NM_144687.4

p.N394K

c.1182C>A

1 paper

NM_144687.4

p.L397P

c.1190T>C

1 paper

NM_144687.4

p.F402insFs

c.1204_1205insC

45 papers

NM_144687.4

p.F402L

c.1204T>C

47 papers

NM_144687.4

p.F402L

c.1206C>G

45 papers

NM_144687.4

p.F402L

c.1206C>A

2 papers

NM_144687.4

p.K371_E372delFs

c.1113_1116del4

12 papers

NM_144687.4

p.W408*

c.1223G>A