Varaico: Literature-Extracted Genetic Variants

Gene:NLRP11
Variant:p.A188S

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.A188S
c.562G>T
Surrounding Variants
1 paper
NM_001394894.2
p.H185delFs
c.554_555delGT
1 paper
NM_001394894.2
p.S198N
c.593G>A
1 paper
NM_001394894.2
p.E201G
c.602A>G
1 paper
NM_001394894.2
p.E201A
c.602A>C
1 paper
NM_001394894.2
p.A204T
c.610G>A
1 paper
NM_001394894.2
p.D216G
c.647A>G
1 paper
NM_001394894.2
p.N145Y
c.433A>T
1 paper
NM_001394894.2
p.S140R
c.420C>G
1 paper
NM_001394894.2
p.S140R
c.420C>A
1 paper
NM_001394894.2
p.S140R
c.418A>C
1 paper
NM_001394894.2
p.R122C
c.364C>T
1 paper
NM_001394894.2
p.L263L
c.789G>A
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