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.E92D

c.276G>T

Surrounding Variants

1 paper

NM_144687.4

p.D93E

c.279C>G

1 paper

NM_144687.4

p.D93E

c.279C>A

3 papers

NM_144687.4

p.V95M

c.283G>A

2 papers

NM_144687.4

p.Q90*

c.268C>T

1 paper

NM_144687.4

p.Q90E

c.268C>G

2 papers

NM_144687.4

p.R96M

c.287G>T

1 paper

NM_144687.4

p.L85L

c.253C>T

1 paper

NM_144687.4

p.D84N

c.250G>A

1 paper

NM_144687.4

p.R79L

c.236G>T

2 papers

NM_144687.4

p.R79Q

c.236G>A

1 paper

NM_144687.4

p.R79W

c.235C>T

2 papers

NM_144687.4

p.T76I

c.227C>T