Varaico: Literature-Extracted Genetic Variants

NLRP7

241 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 9–85UCSCPAAD/DAPIN/Pyrin domain

NACHTaa 172–340UCSCNACHT domain

WHD_NOD2aa 410–466UCSCNOD2 winged helix domain

NLRC4_HD2aa 468–586UCSCNLRC4 helical domain HD2

LRR_6aa 787–809UCSCLeucine Rich repeat

LRR_6aa 844–867UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

NLR family pyrin domain containing 7

HGNC Previous Symbol

NALP7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001127255.2

p.S621delFs

c.1861_1862delGA

Surrounding Variants

1 paper

NM_001127255.2

p.S621fs

c.1861_1862fs

3 papers

NM_001127255.2

p.K619_L620delFs

c.1857_1858delGT

3 papers

NM_001127255.2

p.K619fs

c.1855_1856fs

1 paper

NM_001127255.2

p.A625insFs

c.1874dupC

2 papers

NM_001127255.2

p.D616V

c.1847A>T

1 paper

NM_001127255.2

p.Q615H

c.1845A>T

1 paper

NM_001127255.2

p.Q615H

c.1845A>C

2 papers

NM_001127255.2

p.F629L

c.1885T>C

1 paper

NM_001127255.2

p.V604_H613insFs

c.1812_1837dup26

1 paper

NM_001127255.2

p.H613fs

c.1837_1838fs

1 paper

NM_001127255.2

p.S608F

c.1823C>T

2 papers

NM_001127255.2

p.E637*

c.1909G>T