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

1–12 of 107 variants

2 papers

NM_176820.4

p.S7insFs

c.19dupT

2 papers

NM_176820.4

p.S7fs

c.19_20fs

2 papers

NM_176820.4

p.A50S

c.148G>T

2 papers

NM_176820.4

p.K303*

c.907A>T

2 papers

NM_176820.4

p.G425D

c.1274G>A

2 papers

NM_176820.4

p.R662*

c.1984C>T

2 papers

NM_176820.4

p.R899C

c.2695C>T

2 papers

NM_176820.4

p.A907T

c.2719G>A

1 paper

NM_176820.4

p.S7delFs

c.19delA

1 paper

NM_176820.4

p.R19*

c.55A>T

1 paper

NM_176820.4

p.E22A

c.65A>C

1 paper

NM_176820.4

p.F23L

c.67T>C