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

1–12 of 446 variants

26 papers

NM_001127255.2

p.R693W

c.2077C>T

21 papers

NM_001127255.2

p.R693P

c.2078G>C

20 papers

NM_001127255.2

p.L750V

c.2248C>G

20 papers

NM_001127255.2

p.N913S

c.2738A>G

19 papers

NM_001127255.2

p.A719V

c.2156C>T

17 papers

NM_001127255.2

p.R721W

c.2161C>T

16 papers

NM_001127255.2

p.V319I

c.955G>A

16 papers

NM_001127255.2

p.A481T

c.1441G>A

16 papers

NM_001127255.2

p.S824Splc

c.2471+1G>A

15 papers

NM_001127255.2

p.E99*

c.295G>T

14 papers

NM_001127255.2

p.G487E

c.1460G>A

14 papers

NM_001127255.2

p.K511R

c.1532A>G