Varaico: Literature-Extracted Genetic Variants

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.P329P

c.987G>A

Surrounding Variants

1 paper

NM_176820.4

p.Q349Q

c.1047G>A

1 paper

NM_176820.4

p.G354R

c.1060G>C

1 paper

NM_176820.4

p.G354R

c.1060G>A

1 paper

NM_176820.4

p.S305L

c.914C>T

2 papers

NM_176820.4

p.K303*

c.907A>T

1 paper

NM_176820.4

p.E358K

c.1072G>A

1 paper

NM_176820.4

p.K294K

c.882G>A

1 paper

NM_176820.4

p.L367S

c.1100T>C

1 paper

NM_176820.4

p.R288fs

c.862_863fs

1 paper

NM_176820.4

p.R288delFs

c.862_863delCG

1 paper

NM_176820.4

p.M280T

c.839T>C

1 paper

NM_176820.4

p.I273fs

c.817_818fs