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.F324Y

c.971T>A

Surrounding Variants

1 paper

NM_001127255.2

p.R329M

c.986G>T

1 paper

NM_001127255.2

p.R329K

c.986G>A

16 papers

NM_001127255.2

p.V319I

c.955G>A

1 paper

NM_001127255.2

p.I317_Y318del2

c.949_953del6

1 paper

NM_001127255.2

p.Y318C

c.953A>G

1 paper

NM_001127255.2

p.A313_Y318insFs

c.939_952dup14

3 papers

NM_001127255.2

p.Y318fs

c.952_953fs

1 paper

NM_001127255.2

p.I317I

c.951C>T

1 paper

NM_001127255.2

p.Y332delFs

c.994delA

1 paper

NM_001127255.2

p.E327_F333delFs

c.980_999del20

1 paper

NM_001127255.2

p.Q314fs

c.940_941fs

1 paper

NM_001127255.2

p.A313delFs

c.939delC