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

9 papers

NM_153447.4

p.Q98*

c.292C>T

Surrounding Variants

1 paper

NM_153447.4

p.E100D

c.300A>C

1 paper

NM_153447.4

p.E100D

c.300A>T

1 paper

NM_153447.4

p.I101T

c.302T>C

1 paper

NM_153447.4

p.C94Y

c.281G>A

1 paper

NM_153447.4

p.A104T

c.310G>A

1 paper

NM_153447.4

p.N105N

c.315C>T

1 paper

NM_153447.4

p.V106delFs

c.317_318delTG

1 paper

NM_153447.4

p.L112delFs

c.334delC

1 paper

NM_153447.4

p.L112fs

c.334_335fs

1 paper

NM_153447.4

p.L112L

c.336C>G

1 paper

NM_153447.4

p.H114delFs

c.341_342delAT

1 paper

NM_153447.4

p.F80L

c.240C>A