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.R662*

c.1984C>T

Surrounding Variants

1 paper

NM_176820.4

p.I665L

c.1993A>C

1 paper

NM_176820.4

p.I580T

c.1739T>C

1 paper

NM_176820.4

p.M562I

c.1686G>T

1 paper

NM_176820.4

p.M562I

c.1686G>C

1 paper

NM_176820.4

p.M562I

c.1686G>A

1 paper

NM_176820.4

p.Q553H

c.1659G>T

1 paper

NM_176820.4

p.Q553H

c.1659G>C

1 paper

NM_176820.4

p.L549L

c.1645T>C

1 paper

NM_176820.4

p.A541P

c.1621G>C

1 paper

NM_176820.4

p.D536N

c.1606G>A

1 paper

NM_176820.4

p.S529I

c.1586G>T

1 paper

NM_176820.4

p.V481M

c.1441G>A