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

1–12 of 107 variants

5 papers

NM_001394894.2

p.P438L

c.1313C>T

2 papers

NM_001394894.2

p.R89*

c.265C>T

2 papers

NM_001394894.2

p.A339V

c.1016C>T

2 papers

NM_001394894.2

p.R351Q

c.1052G>A

2 papers

NM_001394894.2

p.R534C

c.1600C>T

2 papers

NM_001394894.2

p.R623*

c.1867A>T

2 papers

NM_001394894.2

p.S1025L

c.3074C>T

1 paper

NM_001394894.2

p.M1V

c.1A>G

1 paper

NM_001394894.2

p.S19C

c.55A>T

1 paper

NM_001394894.2

p.K21E

c.61A>G

1 paper

NM_001394894.2

p.K21Q

c.61A>C

1 paper

NM_001394894.2

p.K21R

c.62A>G