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.G289E

c.866G>A

Surrounding Variants

1 paper

NM_153447.4

p.G286R

c.856G>A

1 paper

NM_153447.4

p.G286R

c.856G>C

4 papers

NM_153447.4

p.S293L

c.878C>T

1 paper

NM_153447.4

p.A294T

c.880G>A

5 papers

NM_153447.4

p.T281M

c.842C>T

1 paper

NM_153447.4

p.R280C

c.838C>T

1 paper

NM_153447.4

p.R280_V282delFs

c.839_846del8

1 paper

NM_153447.4

p.R278W

c.832C>T

1 paper

NM_153447.4

p.C302Y

c.905G>A

1 paper

NM_153447.4

p.R274Q

c.821G>A

1 paper

NM_153447.4

p.R274W

c.820C>T

1 paper

NM_153447.4

p.D273E

c.819C>A