Varaico: Literature-Extracted Genetic Variants

NLRP11

86 papers

RefSeq Summary

This gene is a member of the the NOD-like receptor protein (NLRP) gene family and encodes a protein with an N-terminal pyrin death (PYD) domain and nucleoside triphosphate hydrolase (NACHT) domain and...

Pfam Domains

PYRINaa 10–83UCSCPAAD/DAPIN/Pyrin domain

NACHTaa 147–316UCSCNACHT domain

WHD_NOD2aa 392–448UCSCNOD2 winged helix domain

Gene Aliases

HGNC Name

NLR family pyrin domain containing 11

HGNC Previous Symbol

NALP11

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001394894.2

p.R351Q

c.1052G>A

Surrounding Variants

2 papers

NM_001394894.2

p.A339V

c.1016C>T

1 paper

NM_001394894.2

p.E328K

c.982G>A

1 paper

NM_001394894.2

p.A377V

c.1130C>T

1 paper

NM_001394894.2

p.N387S

c.1160A>G

1 paper

NM_001394894.2

p.D315G

c.944A>G

1 paper

NM_001394894.2

p.L300M

c.898C>A

1 paper

NM_001394894.2

p.G403E

c.1208G>A

1 paper

NM_001394894.2

p.L298F

c.894G>T

1 paper

NM_001394894.2

p.L298F

c.894G>C

1 paper

NM_001394894.2

p.E424K

c.1270G>A

1 paper

NM_001394894.2

p.A433T

c.1297G>A

5 papers

NM_001394894.2

p.P438L

c.1313C>T