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.Q115P

c.344A>C

Surrounding Variants

1 paper

NM_176810.2

p.T111I

c.332C>T

1 paper

NM_176810.2

p.T111S

c.332C>G

1 paper

NM_176810.2

p.L122V

c.364C>G

1 paper

NM_176810.2

p.P140P

c.420A>T

1 paper

NM_176810.2

p.E147K

c.439G>A

1 paper

NM_176810.2

p.E166fs

c.496_497fs

1 paper

NM_176810.2

p.E166delFs

c.496_497delTC

1 paper

NM_176810.2

p.E173K

c.517G>A

1 paper

NM_176810.2

p.T95I

c.284C>T

1 paper

NM_176810.2

p.P77R

c.230C>G

1 paper

NM_176810.2

p.L71I

c.211C>A

1 paper

NM_176810.2

p.R54H

c.161G>A