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

2 papers

NM_144687.4

p.H356Y

c.1066C>T

Surrounding Variants

1 paper

NM_144687.4

p.L354delFs

c.1062delC

1 paper

NM_144687.4

p.E355K

c.1063G>A

1 paper

NM_144687.4

p.P357L

c.1070C>T

1 paper

NM_144687.4

p.L354L

c.1060C>T

1 paper

NM_144687.4

p.L354M

c.1060C>A

7 papers

NM_144687.4

p.L353P

c.1058T>C

1 paper

NM_144687.4

p.R352insFs

c.1054dupC

1 paper

NM_144687.4

p.R352H

c.1055G>A

32 papers

NM_144687.4

p.R352C

c.1054C>T

1 paper

NM_144687.4

p.E367K

c.1099G>A

2 papers

NM_144687.4

p.R343W

c.1027C>T

1 paper

NM_144687.4

p.T341I

c.1022C>T