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

2 papers

NM_176810.2

p.E565G

c.1694A>G

Surrounding Variants

1 paper

NM_176810.2

p.M566V

c.1696A>G

1 paper

NM_176810.2

p.L569F

c.1707A>T

1 paper

NM_176810.2

p.L569F

c.1707A>C

1 paper

NM_176810.2

p.E555K

c.1663G>A

1 paper

NM_176810.2

p.P553T

c.1657C>A

1 paper

NM_176810.2

p.F587S

c.1760T>C

1 paper

NM_176810.2

p.F588L

c.1762T>C

1 paper

NM_176810.2

p.F588L

c.1764C>G

1 paper

NM_176810.2

p.F588L

c.1764C>A

1 paper

NM_176810.2

p.S538R

c.1614T>G

1 paper

NM_176810.2

p.S538R

c.1614T>A

1 paper

NM_176810.2

p.S538R

c.1612A>C