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.E554_E555delFs

c.1662_1665del4

Surrounding Variants

1 paper

NM_001394894.2

p.E554_E555del2

c.1660_1664del6

1 paper

NM_001394894.2

p.E554K

c.1660G>A

1 paper

NM_001394894.2

p.R553Q

c.1658G>A

1 paper

NM_001394894.2

p.V570A

c.1709T>C

1 paper

NM_001394894.2

p.P536L

c.1607C>T

2 papers

NM_001394894.2

p.R534C

c.1600C>T

1 paper

NM_001394894.2

p.M529I

c.1587G>T

1 paper

NM_001394894.2

p.M529I

c.1587G>C

1 paper

NM_001394894.2

p.M529I

c.1587G>A

1 paper

NM_001394894.2

p.C588Y

c.1763G>A

1 paper

NM_001394894.2

p.R600H

c.1799G>A

1 paper

NM_001394894.2

p.K481T

c.1442A>C