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.E648G

c.1943A>G

Surrounding Variants

2 papers

NM_176810.2

p.K652N

c.1956G>T

2 papers

NM_176810.2

p.K652N

c.1956G>C

1 paper

NM_176810.2

p.H643N

c.1927C>A

1 paper

NM_176810.2

p.R637*

c.1909C>T

1 paper

NM_176810.2

p.L623S

c.1868T>C

1 paper

NM_176810.2

p.S690C

c.2069C>G

1 paper

NM_176810.2

p.L604W

c.1811T>G

1 paper

NM_176810.2

p.D602N

c.1804G>A

1 paper

NM_176810.2

p.E599*

c.1795G>T

1 paper

NM_176810.2

p.I596T

c.1787T>C

1 paper

NM_176810.2

p.L703L

c.2109G>C

1 paper

NM_176810.2

p.F588L

c.1764C>G