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.R217R

c.651C>T

Surrounding Variants

1 paper

NM_176810.2

p.E214A

c.641A>C

1 paper

NM_176810.2

p.E211K

c.631G>A

1 paper

NM_176810.2

p.A228V

c.683C>T

1 paper

NM_176810.2

p.V232A

c.695T>C

1 paper

NM_176810.2

p.V202E

c.605T>A

1 paper

NM_176810.2

p.V202L

c.604G>T

1 paper

NM_176810.2

p.V202L

c.604G>C

1 paper

NM_176810.2

p.K199I

c.596A>T

1 paper

NM_176810.2

p.A237S

c.709G>T

1 paper

NM_176810.2

p.W197*

c.591G>A

1 paper

NM_176810.2

p.W197*

c.590G>A

1 paper

NM_176810.2

p.D193G

c.578A>G