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

Selected Variant

1 paper

NM_176810.2

p.N415K

c.1245C>G

Surrounding Variants

1 paper

NM_176810.2

p.N415K

c.1245C>A

1 paper

NM_176810.2

p.R413K

c.1238G>A

1 paper

NM_176810.2

p.F419I

c.1255T>A

1 paper

NM_176810.2

p.F419fs

c.1255_1256fs

2 papers

NM_176810.2

p.F419_H420delFs

c.1255_1258del4

1 paper

NM_176810.2

p.E406Q

c.1216G>C

1 paper

NM_176810.2

p.E404D

c.1212A>T

1 paper

NM_176810.2

p.E404D

c.1212A>C

1 paper

NM_176810.2

p.V431I

c.1291G>A

1 paper

NM_176810.2

p.D400Y

c.1198G>T

1 paper

NM_176810.2

p.R397G

c.1189A>G

1 paper

NM_176810.2

p.M396I

c.1188G>T