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.W759fs

c.2275_2276fs

Surrounding Variants

6 papers

NM_153447.4

p.L758_W759delFs

c.2274_2275delAT

1 paper

NM_153447.4

p.E751K

c.2251G>A

3 papers

NM_153447.4

p.A750T

c.2248G>A

1 paper

NM_153447.4

p.R746delFs

c.2237delG

3 papers

NM_153447.4

p.R737W

c.2209C>T

1 paper

NM_153447.4

p.R734W

c.2200C>T

1 paper

NM_153447.4

p.N715D

c.2143A>G

1 paper

NM_153447.4

p.L712I

c.2134C>A

1 paper

NM_153447.4

p.W711_L712delFs

c.2133_2134delGC

1 paper

NM_153447.4

p.W711fs

c.2131_2132fs

1 paper

NM_153447.4

p.V710G

c.2129T>G

1 paper

NM_153447.4

p.R701C

c.2101C>T