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.I636N

c.1907T>A

Surrounding Variants

2 papers

NM_144687.4

p.V635fs

c.1903_1904fs

2 papers

NM_144687.4

p.V635fs

c.1903_1904fs

1 paper

NM_144687.4

p.H632fs

c.1894_1895fs

1 paper

NM_144687.4

p.H632N

c.1894C>A

7 papers

NM_144687.4

p.A629D

c.1886C>A

1 paper

NM_144687.4

p.E646K

c.1936G>A

1 paper

NM_144687.4

p.V649I

c.1945G>A

1 paper

NM_144687.4

p.E623E

c.1869G>A

2 papers

NM_144687.4

p.S651*

c.1952C>A

2 papers

NM_144687.4

p.E619Q

c.1855G>C

7 papers

NM_144687.4

p.Y618*

c.1854C>G

6 papers

NM_144687.4

p.Y618*

c.1854C>A