Varaico: Literature-Extracted Genetic Variants

NLRP13

94 papers

RefSeq Summary

This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), ...

Pfam Domains

PYRINaa 16–99UCSCPAAD/DAPIN/Pyrin domain

NACHTaa 229–402UCSCNACHT domain

WHD_NOD2aa 478–535UCSCNOD2 winged helix domain

NLRC4_HD2aa 536–653UCSCNLRC4 helical domain HD2

LRR_6aa 836–859UCSCLeucine Rich repeat

LRR_6aa 893–916UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

NLR family pyrin domain containing 13

HGNC Previous Symbol

NALP13

Papers

RefSeq ID

Protein change

DNA change

1–12 of 149 variants

2 papers

NM_176810.2

p.D291N

c.871G>A

2 papers

NM_176810.2

p.F419_H420delFs

c.1255_1258del4

2 papers

NM_176810.2

p.E565G

c.1694A>G

2 papers

NM_176810.2

p.K652N

c.1956G>T

2 papers

NM_176810.2

p.K652N

c.1956G>C

2 papers

NM_176810.2

p.T761M

c.2282C>T

2 papers

NM_176810.2

p.N781S

c.2342A>G

2 papers

NM_176810.2

p.P922A

c.2764C>G

2 papers

NM_176810.2

p.A975T

c.2923G>A

1 paper

NM_176810.2

p.G12S

c.34G>A

1 paper

NM_176810.2

p.G12D

c.35G>A

1 paper

NM_176810.2

p.G16E

c.47G>A