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.F337_G338insG

c.1009_1013ins3

Surrounding Variants

1 paper

NM_001127255.2

p.G338E

c.1013G>A

3 papers

NM_001127255.2

p.E340K

c.1018G>A

2 papers

NM_001127255.2

p.E340fs

c.1018_1019fs

1 paper

NM_001127255.2

p.E327_F333delFs

c.980_999del20

1 paper

NM_001127255.2

p.E340fs

c.1018_1019fs

1 paper

NM_001127255.2

p.E340Fs

c.1018_1020delinsCAAAAFs

1 paper

NM_001127255.2

p.Y332delFs

c.994delA

1 paper

NM_001127255.2

p.R329M

c.986G>T

1 paper

NM_001127255.2

p.R329K

c.986G>A

1 paper

NM_001127255.2

p.F324Y

c.971T>A

1 paper

NM_001127255.2

p.R351G

c.1051A>G

1 paper

NM_001127255.2

p.R351T

c.1052G>C