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.L691Splc

c.2072+1G>C

Surrounding Variants

1 paper

NM_144687.4

p.Q690*

c.2068C>T

1 paper

NM_144687.4

p.A684P

c.2050G>C

1 paper

NM_144687.4

p.G683R

c.2047G>C

1 paper

NM_144687.4

p.G683R

c.2047G>A

3 papers

NM_144687.4

p.C680*

c.2040C>A

1 paper

NM_144687.4

p.R679T

c.2036G>C

1 paper

NM_144687.4

p.G674V

c.2021G>T

1 paper

NM_144687.4

p.G674W

c.2020G>T

1 paper

NM_144687.4

p.Y670*

c.2010C>A

1 paper

NM_144687.4

p.A660D

c.1979C>A

2 papers

NM_144687.4

p.R656fs

c.1966_1967fs

2 papers

NM_144687.4

p.R656delFs

c.1967delC