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

2 papers

NM_176820.4

p.R899C

c.2695C>T

Surrounding Variants

1 paper

NM_176820.4

p.I905I

c.2715C>T

1 paper

NM_176820.4

p.G891R

c.2671G>C

2 papers

NM_176820.4

p.A907T

c.2719G>A

1 paper

NM_176820.4

p.G891R

c.2671G>A

1 paper

NM_176820.4

p.A943fs

c.2827_2828fs

1 paper

NM_176820.4

p.M946I

c.2838G>T

1 paper

NM_176820.4

p.M946I

c.2838G>C

1 paper

NM_176820.4

p.M946I

c.2838G>A

1 paper

NM_176820.4

p.L947Q

c.2840T>A

1 paper

NM_176820.4

p.A943_G948delFs

c.2828_2843del16

1 paper

NM_176820.4

p.G891R

c.2671G>A

1 paper

NM_176820.4

p.Q881*

c.2641C>T