Varaico: Literature-Extracted Genetic Variants

Gene:NLRP11
Variant:p.E736K

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.E736K
c.2206G>A
Surrounding Variants
1 paper
NM_001394894.2
p.E736Q
c.2206G>C
1 paper
NM_001394894.2
p.E736D
c.2208A>T
1 paper
NM_001394894.2
p.E736D
c.2208A>C
1 paper
NM_001394894.2
p.A739D
c.2216C>A
1 paper
NM_001394894.2
p.R731P
c.2192G>C
1 paper
NM_001394894.2
p.M726T
c.2177T>C
1 paper
NM_001394894.2
p.P773R
c.2318C>G
1 paper
NM_001394894.2
p.I778V
c.2332A>G
1 paper
NM_001394894.2
p.A794T
c.2380G>A
1 paper
NM_001394894.2
p.R814L
c.2441G>T
1 paper
NM_001394894.2
p.H838Splc
c.2513+11C>G
1 paper
NM_001394894.2
p.L703I
c.2107C>A
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