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.W381*

c.1142G>A

Surrounding Variants

1 paper

NM_153447.4

p.W381*

c.1143G>A

1 paper

NM_153447.4

p.D380fs

c.1138_1139fs

1 paper

NM_153447.4

p.L377P

c.1130T>C

4 papers

NM_153447.4

p.P386ins0

c.1156_1158dupCCT

1 paper

NM_153447.4

p.P386A

c.1156C>G

2 papers

NM_153447.4

p.P387P

c.1161G>A

1 paper

NM_153447.4

p.N372D

c.1114A>G

3 papers

NM_153447.4

p.L371F

c.1111C>T

1 paper

NM_153447.4

p.R392C

c.1174C>T

2 papers

NM_153447.4

p.R392H

c.1175G>A

1 paper

NM_153447.4

p.S369Y

c.1106C>A

3 papers

NM_153447.4

p.D366V

c.1097A>T