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

1 paper

NM_153447.4

p.T615A

c.1843A>G

Surrounding Variants

3 papers

NM_153447.4

p.Y611fs

c.1831_1832fs

1 paper

NM_153447.4

p.L610_Y611delFs

c.1830_1831delGT

1 paper

NM_153447.4

p.G625insFs

c.1874dupG

1 paper

NM_153447.4

p.E599K

c.1795G>A

5 papers

NM_153447.4

p.R635C

c.1903C>T

1 paper

NM_153447.4

p.L637F

c.1911G>T

1 paper

NM_153447.4

p.F590L

c.1770C>A

1 paper

NM_153447.4

p.F590L

c.1770C>G

1 paper

NM_153447.4

p.F590L

c.1768T>C

8 papers

NM_153447.4

p.L640R

c.1919T>G

1 paper

NM_153447.4

p.D589N

c.1765G>A

2 papers

NM_153447.4

p.S586R

c.1758T>A