Varaico: Literature-Extracted Genetic Variants

Gene:NLRP11
Variant:p.K443E

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
PYRINaa 10–83UCSCPAAD/DAPIN/Pyrin domain
NACHTaa 147–316UCSCNACHT domain
NACHTaa 147–316UCSCNACHT domain
WHD_NOD2aa 392–448UCSCNOD2 winged helix 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.K443E
c.1327A>G
Surrounding Variants
1 paper
NM_001394894.2
p.H442Q
c.1326T>G
1 paper
NM_001394894.2
p.H442Q
c.1326T>A
1 paper
NM_001394894.2
p.D444H
c.1330G>C
1 paper
NM_001394894.2
p.D444N
c.1330G>A
1 paper
NM_001394894.2
p.R445C
c.1333C>T
1 paper
NM_001394894.2
p.N440K
c.1320C>G
1 paper
NM_001394894.2
p.N440K
c.1320C>A
5 papers
NM_001394894.2
p.P438L
c.1313C>T
1 paper
NM_001394894.2
p.A433T
c.1297G>A
1 paper
NM_001394894.2
p.A459V
c.1376C>T
1 paper
NM_001394894.2
p.E424K
c.1270G>A
1 paper
NM_001394894.2
p.P467T
c.1399C>A
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