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

1 paper

NM_001394894.2

p.L880fs

c.2638_2639fs

Surrounding Variants

1 paper

NM_001394894.2

p.L879insFs

c.2636dupT

1 paper

NM_001394894.2

p.L884F

c.2652G>T

1 paper

NM_001394894.2

p.L884F

c.2652G>C

1 paper

NM_001394894.2

p.G868E

c.2603G>A

1 paper

NM_001394894.2

p.T858I

c.2573C>T

1 paper

NM_001394894.2

p.R921K

c.2762G>A

1 paper

NM_001394894.2

p.C946R

c.2836T>C

1 paper

NM_001394894.2

p.H838Splc

c.2513+11C>G

1 paper

NM_001394894.2

p.R814L

c.2441G>T

1 paper

NM_001394894.2

p.A794T

c.2380G>A

1 paper

NM_001394894.2

p.E971K

c.2911G>A

1 paper

NM_001394894.2

p.K973N

c.2919A>T