Varaico: Literature-Extracted Genetic Variants

Gene:NLRP11
Variant:p.F23L

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.F23L
c.69T>G
Surrounding Variants
1 paper
NM_001394894.2
p.F23L
c.69T>A
1 paper
NM_001394894.2
p.Q24*
c.70C>T
1 paper
NM_001394894.2
p.F23L
c.67T>C
1 paper
NM_001394894.2
p.E22K
c.64G>A
1 paper
NM_001394894.2
p.K21R
c.62A>G
1 paper
NM_001394894.2
p.F26S
c.77T>C
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.S19C
c.55A>T
1 paper
NM_001394894.2
p.P40A
c.118C>G
1 paper
NM_001394894.2
p.M1V
c.1A>G
1 paper
NM_001394894.2
p.D80N
c.238G>A
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