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.K461delFs

c.1383delT

Surrounding Variants

3 papers

NM_001127255.2

p.R458_V459delFs

c.1374_1375delCT

2 papers

NM_001127255.2

p.Y464*

c.1392C>G

2 papers

NM_001127255.2

p.Y464*

c.1392C>A

3 papers

NM_001127255.2

p.R458fs

c.1372_1373fs

1 paper

NM_001127255.2

p.L469P

c.1406T>C

1 paper

NM_001127255.2

p.I453S

c.1358T>G

1 paper

NM_001127255.2

p.Q472*

c.1414C>T

1 paper

NM_001127255.2

p.G451R

c.1351G>C

1 paper

NM_001127255.2

p.G451R

c.1351G>A

1 paper

NM_001127255.2

p.D450N

c.1348G>A

3 papers

NM_001127255.2

p.R446H

c.1337G>A

1 paper

NM_001127255.2

p.Y480Y

c.1440C>T