Varaico: Literature-Extracted Genetic Variants

NLRP5

207 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 64–140UCSCPAAD/DAPIN/Pyrin domain

NACHTaa 280–447UCSCNACHT domain

WHD_NOD2aa 527–582UCSCNOD2 winged helix domain

NLRC4_HD2aa 584–702UCSCNLRC4 helical domain HD2

LRR_6aa 892–915UCSCLeucine Rich repeat

LRR_6aa 1006–1029UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

NLR family pyrin domain containing 5

HGNC Previous Symbol

NALP5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_153447.4

p.M567V

c.1699A>G

Surrounding Variants

1 paper

NM_153447.4

p.L571F

c.1711C>T

5 papers

NM_153447.4

p.R562H

c.1685G>A

8 papers

NM_153447.4

p.G555V

c.1664G>T

1 paper

NM_153447.4

p.G555insFs

c.1663dupG

1 paper

NM_153447.4

p.D550N

c.1648G>A

2 papers

NM_153447.4

p.S586R

c.1756A>C

2 papers

NM_153447.4

p.D547D

c.1641C>T

2 papers

NM_153447.4

p.S586T

c.1757G>C

2 papers

NM_153447.4

p.S586R

c.1758T>A

2 papers

NM_153447.4

p.S586R

c.1758T>G

2 papers

NM_153447.4

p.D547N

c.1639G>A

1 paper

NM_153447.4

p.D589N

c.1765G>A