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.R767Splc

c.2300+17C>A

Surrounding Variants

1 paper

NM_001127255.2

p.R767Splc

c.2300+34T>C

1 paper

NM_001127255.2

p.R767K

c.2300G>A

1 paper

NM_001127255.2

p.Q764fs

c.2290_2291fs

1 paper

NM_001127255.2

p.L763insFs

c.2288_2289insCT

7 papers

NM_001127255.2

p.C761Y

c.2282G>A

2 papers

NM_001127255.2

p.R767Splc

c.2300+57T>C

1 paper

NM_001127255.2

p.H759Y

c.2275C>T

1 paper

NM_001127255.2

p.L752L

c.2254C>T

20 papers

NM_001127255.2

p.L750V

c.2248C>G

1 paper

NM_001127255.2

p.R746delFs

c.2237delC

2 papers

NM_001127255.2

p.E743*

c.2227G>T

2 papers

NM_001127255.2

p.E743K

c.2227G>A