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.W314R

c.940T>C

Surrounding Variants

1 paper

NM_144687.4

p.E316A

c.947A>C

4 papers

NM_144687.4

p.P319R

c.956C>G

1 paper

NM_144687.4

p.T320A

c.958A>G

1 paper

NM_144687.4

p.T320M

c.959C>T

1 paper

NM_144687.4

p.D305A

c.914A>C

1 paper

NM_144687.4

p.D305Y

c.913G>T

3 papers

NM_144687.4

p.D305N

c.913G>A

37 papers

NM_144687.4

p.H304Y

c.910C>T

1 paper

NM_144687.4

p.L324V

c.970C>G

1 paper

NM_144687.4

p.F303fs

c.907_908fs

3 papers

NM_144687.4

p.F303delFs

c.908delA

3 papers

NM_144687.4

p.F303fs

c.907_908fs