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.D297E

c.891T>G

Surrounding Variants

1 paper

NM_144687.4

p.D297E

c.891T>A

1 paper

NM_144687.4

p.E298*

c.892G>T

2 papers

NM_144687.4

p.E298D

c.894G>T

1 paper

NM_144687.4

p.E298D

c.894G>C

1 paper

NM_144687.4

p.L299P

c.896T>C

1 paper

NM_144687.4

p.L299H

c.896T>A

1 paper

NM_144687.4

p.G295delFs

c.883_884delCC

20 papers

NM_144687.4

p.D294E

c.882C>G

18 papers

NM_144687.4

p.D294E

c.882C>A

1 paper

NM_144687.4

p.D294N

c.880G>A

1 paper

NM_144687.4

p.D297_S302delFs

c.889_905del17

3 papers

NM_144687.4

p.F303fs

c.907_908fs