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.P320R

c.959C>G

Surrounding Variants

1 paper

NM_153447.4

p.V321I

c.961G>A

1 paper

NM_153447.4

p.V321L

c.961G>C

1 paper

NM_153447.4

p.P320delFs

c.958delC

5 papers

NM_153447.4

p.M324K

c.971T>A

1 paper

NM_153447.4

p.V316I

c.946G>A

1 paper

NM_153447.4

p.F317_F318del2

c.949_953del6

1 paper

NM_153447.4

p.M312I

c.936G>A

1 paper

NM_153447.4

p.M312I

c.936G>C

1 paper

NM_153447.4

p.M312I

c.936G>T

1 paper

NM_153447.4

p.M312T

c.935T>C

1 paper

NM_153447.4

p.Q305R

c.914A>G

1 paper

NM_153447.4

p.C302Y

c.905G>A