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.M1K

c.2T>A

Surrounding Variants

1 paper

NM_144687.4

p.M1insFs

c.1_2insA

2 papers

NM_144687.4

p.M1T

c.2T>C

20 papers

NM_144687.4

p.M1insFs

c.2dupT

1 paper

NM_144687.4

p.M1V

c.1A>G

1 paper

NM_144687.4

p.L2P

c.5T>C

1 paper

NM_144687.4

p.R3insFs

c.8_9insCT

1 paper

NM_144687.4

p.R3_T4insFs

c.9_10insT

3 papers

NM_144687.4

p.R7G

c.19A>G

1 paper

NM_144687.4

p.D8N

c.22G>A

1 paper

NM_144687.4

p.G9S

c.25G>A

1 paper

NM_144687.4

p.L10P

c.29T>C

1 paper

NM_144687.4

p.R12C

c.34C>T