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.C827R

c.2479T>C

Surrounding Variants

1 paper

NM_176810.2

p.R842Q

c.2525G>A

1 paper

NM_176810.2

p.A860V

c.2579C>T

1 paper

NM_176810.2

p.E870Q

c.2608G>C

2 papers

NM_176810.2

p.N781S

c.2342A>G

1 paper

NM_176810.2

p.L771L

c.2311C>T

1 paper

NM_176810.2

p.P767H

c.2300C>A

2 papers

NM_176810.2

p.T761M

c.2282C>T

1 paper

NM_176810.2

p.A883V

c.2648C>T

1 paper

NM_176810.2

p.D889N

c.2665G>A

1 paper

NM_176810.2

p.Q893K

c.2677C>A

1 paper

NM_176810.2

p.Q893H

c.2679G>T

1 paper

NM_176810.2

p.Q893H

c.2679G>C