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

5 papers

NM_144687.4

p.S578G

c.1732A>G

Surrounding Variants

1 paper

NM_144687.4

p.L579I

c.1735C>A

1 paper

NM_144687.4

p.L579fs

c.1735_1736fs

1 paper

NM_144687.4

p.C580R

c.1738T>C

7 papers

NM_144687.4

p.W581*

c.1742G>A

6 papers

NM_144687.4

p.W581*

c.1743G>A

1 paper

NM_144687.4

p.S584S

c.1752G>A

1 paper

NM_144687.4

p.E570D

c.1710G>C

1 paper

NM_144687.4

p.E570G

c.1709A>G

1 paper

NM_144687.4

p.H586Y

c.1756C>T

1 paper

NM_144687.4

p.I587I

c.1761C>T

1 paper

NM_144687.4

p.L566F

c.1696C>T

3 papers

NM_144687.4

p.L591M

c.1771C>A