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.M534I

c.1602G>C

Surrounding Variants

1 paper

NM_153447.4

p.M534I

c.1602G>A

1 paper

NM_153447.4

p.M534I

c.1602G>T

8 papers

NM_153447.4

p.R533P

c.1598G>C

3 papers

NM_153447.4

p.R533C

c.1597C>T

2 papers

NM_153447.4

p.R530C

c.1588C>T

3 papers

NM_153447.4

p.R525fs

c.1573_1574fs

2 papers

NM_153447.4

p.R525_V526delFs

c.1575_1576delAG

2 papers

NM_153447.4

p.D547N

c.1639G>A

2 papers

NM_153447.4

p.D547D

c.1641C>T

1 paper

NM_153447.4

p.D550N

c.1648G>A

1 paper

NM_153447.4

p.C519R

c.1555T>C

2 papers

NM_153447.4

p.R518C

c.1552C>T