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.L1032F

c.3096G>C

Surrounding Variants

1 paper

NM_176810.2

p.L1032F

c.3096G>T

1 paper

NM_176810.2

p.K1033fs

c.3097_3098fs

1 paper

NM_176810.2

p.G1043R

c.3127G>A

1 paper

NM_176810.2

p.E1019*

c.3055G>T

1 paper

NM_176810.2

p.C997F

c.2990G>T

1 paper

NM_176810.2

p.G986Splc

c.2958-5C>T

1 paper

NM_176810.2

p.R980H

c.2939G>A

2 papers

NM_176810.2

p.A975T

c.2923G>A

1 paper

NM_176810.2

p.D963G

c.2888A>G

1 paper

NM_176810.2

p.L957L

c.2871G>A

1 paper

NM_176810.2

p.N925S

c.2774A>G

2 papers

NM_176810.2

p.P922A

c.2764C>G