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

1–12 of 430 variants

47 papers

NM_144687.4

p.F402L

c.1206C>G

45 papers

NM_144687.4

p.F402L

c.1204T>C

45 papers

NM_144687.4

p.F402L

c.1206C>A

40 papers

NM_144687.4

p.R284*

c.850C>T

37 papers

NM_144687.4

p.H304Y

c.910C>T

32 papers

NM_144687.4

p.R352C

c.1054C>T

20 papers

NM_144687.4

p.M1insFs

c.2dupT

20 papers

NM_144687.4

p.D294E

c.882C>G

18 papers

NM_144687.4

p.D294E

c.882C>A

15 papers

NM_144687.4

p.T260M

c.779C>T

14 papers

NM_144687.4

p.G448A

c.1343G>C

13 papers

NM_144687.4

p.G39V

c.116G>T