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.P346L

c.1037C>T

Surrounding Variants

1 paper

NM_153447.4

p.A345P

c.1033G>C

1 paper

NM_153447.4

p.T348T

c.1044G>A

1 paper

NM_153447.4

p.E349G

c.1046A>G

1 paper

NM_153447.4

p.P341_D342del2

c.1021_1025del6

4 papers

NM_153447.4

p.R353*

c.1057C>T

1 paper

NM_153447.4

p.E339K

c.1015G>A

8 papers

NM_153447.4

p.P354L

c.1061C>T

1 paper

NM_153447.4

p.R356delFs

c.1066delA

1 paper

NM_153447.4

p.R356G

c.1066A>G

1 paper

NM_153447.4

p.R356K

c.1067G>A

4 papers

NM_153447.4

p.D365N

c.1093G>A

3 papers

NM_153447.4

p.D366V

c.1097A>T