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

8 papers

NM_153447.4

p.C774R

c.2320T>C

Surrounding Variants

1 paper

NM_153447.4

p.H782Y

c.2344C>T

1 paper

NM_153447.4

p.T764T

c.2292C>A

1 paper

NM_153447.4

p.R784Q

c.2351G>A

7 papers

NM_153447.4

p.Q785*

c.2353C>T

1 paper

NM_153447.4

p.D762N

c.2284G>A

2 papers

NM_153447.4

p.R761L

c.2282G>T

2 papers

NM_153447.4

p.R761W

c.2281C>T

1 paper

NM_153447.4

p.L788V

c.2362C>G

4 papers

NM_153447.4

p.L793R

c.2378T>G

1 paper

NM_153447.4

p.W759Splc

c.2277-18C>G

1 paper

NM_153447.4

p.T794R

c.2381C>G

1 paper

NM_153447.4

p.R796W

c.2386C>T