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.V486L

c.1456G>C

Surrounding Variants

1 paper

NM_153447.4

p.V486L

c.1456G>T

1 paper

NM_153447.4

p.L481V

c.1441C>G

1 paper

NM_153447.4

p.A492T

c.1474G>A

1 paper

NM_153447.4

p.V479L

c.1435G>C

1 paper

NM_153447.4

p.V479L

c.1435G>T

1 paper

NM_153447.4

p.C478C

c.1434C>T

1 paper

NM_153447.4

p.P493_F494delFs

c.1479_1480delCT

1 paper

NM_153447.4

p.I477M

c.1431C>G

1 paper

NM_153447.4

p.I477V

c.1429A>G

1 paper

NM_153447.4

p.Q496K

c.1486C>A

1 paper

NM_153447.4

p.Q496P

c.1487A>C

1 paper

NM_153447.4

p.Q496H

c.1488A>C