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.E67Q

c.199G>C

Surrounding Variants

1 paper

NM_144687.4

p.E67V

c.200A>T

1 paper

NM_144687.4

p.E67A

c.200A>C

1 paper

NM_144687.4

p.E68D

c.204G>T

1 paper

NM_144687.4

p.E68_A69insFs

c.204_205insA

1 paper

NM_144687.4

p.E68D

c.204G>C

3 papers

NM_144687.4

p.G65R

c.193G>C

2 papers

NM_144687.4

p.G65R

c.193G>A

1 paper

NM_144687.4

p.W70G

c.208T>G

1 paper

NM_144687.4

p.W70*

c.209G>A

1 paper

NM_144687.4

p.W70*

c.210G>A

1 paper

NM_144687.4

p.H63D

c.187C>G

1 paper

NM_144687.4

p.I61M

c.183C>G