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

1–12 of 325 variants

9 papers

NM_153447.4

p.Q98*

c.292C>T

9 papers

NM_153447.4

p.G289E

c.866G>A

8 papers

NM_153447.4

p.P354L

c.1061C>T

8 papers

NM_153447.4

p.R533P

c.1598G>C

8 papers

NM_153447.4

p.G555V

c.1664G>T

8 papers

NM_153447.4

p.L640R

c.1919T>G

8 papers

NM_153447.4

p.T694I

c.2081C>T

8 papers

NM_153447.4

p.C774R

c.2320T>C

7 papers

NM_153447.4

p.M52T

c.155T>C

7 papers

NM_153447.4

p.E76Q

c.226G>C

7 papers

NM_153447.4

p.M567V

c.1699A>G

7 papers

NM_153447.4

p.W759fs

c.2275_2276fs