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.G50W

c.148G>T

Surrounding Variants

1 paper

NM_176810.2

p.R54H

c.161G>A

1 paper

NM_176810.2

p.E37G

c.110A>G

1 paper

NM_176810.2

p.L71I

c.211C>A

1 paper

NM_176810.2

p.Q28E

c.82C>G

1 paper

NM_176810.2

p.Q26R

c.77A>G

1 paper

NM_176810.2

p.P77R

c.230C>G

1 paper

NM_176810.2

p.P19S

c.55C>T

1 paper

NM_176810.2

p.G16E

c.47G>A

1 paper

NM_176810.2

p.G12D

c.35G>A

1 paper

NM_176810.2

p.G12S

c.34G>A

1 paper

NM_176810.2

p.T95I

c.284C>T

1 paper

NM_176810.2

p.T111I

c.332C>T