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.L508V

c.1522C>G

Surrounding Variants

1 paper

NM_176810.2

p.E506D

c.1518G>T

1 paper

NM_176810.2

p.E506D

c.1518G>C

1 paper

NM_176810.2

p.F496_T497del2

c.1486_1490del6

1 paper

NM_176810.2

p.W492L

c.1475G>T

1 paper

NM_176810.2

p.F534L

c.1600T>C

1 paper

NM_176810.2

p.F534fs

c.1600_1601fs

1 paper

NM_176810.2

p.F534L

c.1602C>G

1 paper

NM_176810.2

p.F534L

c.1602C>A

1 paper

NM_176810.2

p.W480R

c.1438T>C

1 paper

NM_176810.2

p.W480R

c.1438T>A

1 paper

NM_176810.2

p.S538R

c.1612A>C

1 paper

NM_176810.2

p.S538R

c.1614T>G