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.I196V

c.586A>G

Surrounding Variants

1 paper

NM_144687.4

p.E197K

c.589G>A

1 paper

NM_144687.4

p.A191S

c.571G>T

1 paper

NM_144687.4

p.E201K

c.601G>A

3 papers

NM_144687.4

p.Q190fs

c.568_569fs

1 paper

NM_144687.4

p.D203N

c.607G>A

1 paper

NM_144687.4

p.D203V

c.608A>T

1 paper

NM_144687.4

p.E204fs

c.610_611fs

1 paper

NM_144687.4

p.E204insFs

c.611_612ins4

1 paper

NM_144687.4

p.V187G

c.560T>G

1 paper

NM_144687.4

p.T186T

c.558C>T

2 papers

NM_144687.4

p.R206C

c.616C>T

1 paper

NM_144687.4

p.R206H

c.617G>A