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.E76Q

c.226G>C

Surrounding Variants

1 paper

NM_153447.4

p.E76K

c.226G>A

1 paper

NM_153447.4

p.Q78P

c.233A>C

1 paper

NM_153447.4

p.D73_F80ins2

c.218_238dup21

1 paper

NM_153447.4

p.F80L

c.238T>C

1 paper

NM_153447.4

p.F80C

c.239T>G

1 paper

NM_153447.4

p.F80L

c.240C>A

1 paper

NM_153447.4

p.F80L

c.240C>G

1 paper

NM_153447.4

p.Y70C

c.209A>G

1 paper

NM_153447.4

p.Y70fs

c.208_209fs

1 paper

NM_153447.4

p.Y70delFs

c.208_209delTA

1 paper

NM_153447.4

p.G64R

c.190G>A

1 paper

NM_153447.4

p.S62T

c.185G>C