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.R243G

c.727A>G

Surrounding Variants

5 papers

NM_144687.4

p.Y246C

c.737A>G

1 paper

NM_144687.4

p.C252Y

c.755G>A

1 paper

NM_144687.4

p.R253insFs

c.759dupG

2 papers

NM_144687.4

p.V230M

c.688G>A

2 papers

NM_144687.4

p.N256D

c.766A>G

1 paper

NM_144687.4

p.Q257E

c.769C>G

1 paper

NM_144687.4

p.H228H

c.684C>T

1 paper

NM_144687.4

p.Q257H

c.771G>T

1 paper

NM_144687.4

p.Q257H

c.771G>C

1 paper

NM_144687.4

p.Q257delFs

c.770delT

1 paper

NM_144687.4

p.H228Y

c.682C>T

1 paper

NM_144687.4

p.A227V

c.680C>T