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.E424Q

c.1270G>C

Surrounding Variants

2 papers

NM_176820.4

p.G425D

c.1274G>A

1 paper

NM_176820.4

p.G419W

c.1255G>T

1 paper

NM_176820.4

p.R437K

c.1310G>A

1 paper

NM_176820.4

p.G438A

c.1313G>C

1 paper

NM_176820.4

p.E401Q

c.1201G>C

1 paper

NM_176820.4

p.R389K

c.1166G>A

1 paper

NM_176820.4

p.V387V

c.1161G>A

1 paper

NM_176820.4

p.L367S

c.1100T>C

1 paper

NM_176820.4

p.V481M

c.1441G>A

1 paper

NM_176820.4

p.E358K

c.1072G>A

1 paper

NM_176820.4

p.G354R

c.1060G>C

1 paper

NM_176820.4

p.G354R

c.1060G>A