Varaico: Literature-Extracted Genetic Variants

Gene:NLRP9
Variant:p.A56A

NLRP9

81 papers

RefSeq Summary

The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich rep...

Pfam Domains

PYRINaa 10–86UCSCPAAD/DAPIN/Pyrin domain
NACHTaa 146–314UCSCNACHT domain
WHD_NOD2aa 390–443UCSCNOD2 winged helix domain
NLRC4_HD2aa 445–560UCSCNLRC4 helical domain HD2
LRR_6aa 740–763UCSCLeucine Rich repeat
LRR_6aa 797–820UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

NLR family pyrin domain containing 9

HGNC Previous Symbol

NALP9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_176820.4
p.A56A
c.168A>G
Surrounding Variants
1 paper
NM_176820.4
p.A50D
c.149C>A
2 papers
NM_176820.4
p.A50S
c.148G>T
1 paper
NM_176820.4
p.K49N
c.147G>T
1 paper
NM_176820.4
p.K49N
c.147G>C
1 paper
NM_176820.4
p.Q67K
c.199C>A
1 paper
NM_176820.4
p.I42M
c.126C>G
1 paper
NM_176820.4
p.E35Q
c.103G>C
1 paper
NM_176820.4
p.E35K
c.103G>A
1 paper
NM_176820.4
p.K31T
c.92A>C
1 paper
NM_176820.4
p.E28V
c.83A>T
1 paper
NM_176820.4
p.W85C
c.255G>T
1 paper
NM_176820.4
p.W85C
c.255G>C
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