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.C690Y

c.2069G>A

Surrounding Variants

2 papers

NM_153447.4

p.E693K

c.2077G>A

1 paper

NM_153447.4

p.A687T

c.2059G>A

8 papers

NM_153447.4

p.T694I

c.2081C>T

1 paper

NM_153447.4

p.K697delFs

c.2090_2091delAA

2 papers

NM_153447.4

p.K697fs

c.2089_2090fs

1 paper

NM_153447.4

p.R701C

c.2101C>T

1 paper

NM_153447.4

p.L671V

c.2011C>G

1 paper

NM_153447.4

p.V710G

c.2129T>G

1 paper

NM_153447.4

p.W711fs

c.2131_2132fs

1 paper

NM_153447.4

p.W711_L712delFs

c.2133_2134delGC

1 paper

NM_153447.4

p.V669delFs

c.2006delT

1 paper

NM_153447.4

p.S670_L671delFs

c.2010_2011delTC