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.F160L

c.478T>C

Surrounding Variants

1 paper

NM_001127255.2

p.F160L

c.480C>G

1 paper

NM_001127255.2

p.F160L

c.480C>A

1 paper

NM_001127255.2

p.R156delFs

c.467delC

1 paper

NM_001127255.2

p.P163S

c.487C>T

10 papers

NM_001127255.2

p.R156Q

c.467G>A

1 paper

NM_001127255.2

p.P166L

c.497C>T

1 paper

NM_001127255.2

p.R153delFs

c.458delC

1 paper

NM_001127255.2

p.V150fs

c.448_449fs

1 paper

NM_001127255.2

p.D149G

c.446A>G

1 paper

NM_001127255.2

p.D148H

c.442G>C

1 paper

NM_001127255.2

p.T173M

c.518C>T

1 paper

NM_001127255.2

p.N145D

c.433A>G