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

2 papers

NM_001127255.2

p.P383L

c.1148C>T

Surrounding Variants

1 paper

NM_001127255.2

p.P383P

c.1149G>A

1 paper

NM_001127255.2

p.E381K

c.1141G>A

1 paper

NM_001127255.2

p.G380E

c.1139G>A

10 papers

NM_001127255.2

p.G380R

c.1138G>C

10 papers

NM_001127255.2

p.G380R

c.1138G>A

1 paper

NM_001127255.2

p.T386ins0

c.1156_1158dupACC

10 papers

NM_001127255.2

p.K379N

c.1137G>T

11 papers

NM_001127255.2

p.K379N

c.1137G>C

8 papers

NM_001127255.2

p.K379K

c.1137G>A

1 paper

NM_001127255.2

p.R390C

c.1168C>T

3 papers

NM_001127255.2

p.R390fs

c.1168_1169fs

6 papers

NM_001127255.2

p.R390H

c.1169G>A