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

40 papers

NM_144687.4

p.R284*

c.850C>T

Surrounding Variants

2 papers

NM_144687.4

p.I283N

c.848T>A

1 paper

NM_144687.4

p.V285I

c.853G>A

8 papers

NM_144687.4

p.P286L

c.857C>T

1 paper

NM_144687.4

p.P286P

c.858C>G

1 paper

NM_144687.4

p.E281K

c.841G>A

1 paper

NM_144687.4

p.Q280*

c.838C>T

1 paper

NM_144687.4

p.E287del1

c.859_860delCTC

1 paper

NM_144687.4

p.P275_A277ins1

c.825_830dup6

1 paper

NM_144687.4

p.A277V

c.830C>T

1 paper

NM_144687.4

p.S276S

c.828C>T

1 paper

NM_144687.4

p.F291fs

c.871_872fs

1 paper

NM_144687.4

p.F291delFs

c.872delA