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.V133A

c.398T>C

Surrounding Variants

1 paper

NM_001127255.2

p.L132delFs

c.394_395delAA

2 papers

NM_001127255.2

p.L132fs

c.394_395fs

8 papers

NM_001127255.2

p.Q130Q

c.390G>A

3 papers

NM_001127255.2

p.Q140*

c.418C>T

1 paper

NM_001127255.2

p.S126A

c.376T>G

1 paper

NM_001127255.2

p.Q140H

c.420A>T

1 paper

NM_001127255.2

p.R124delFs

c.372delT

1 paper

NM_001127255.2

p.G141R

c.421G>A

1 paper

NM_001127255.2

p.R124K

c.371G>A

1 paper

NM_001127255.2

p.W123*

c.368G>A

1 paper

NM_001127255.2

p.N145D

c.433A>G

1 paper

NM_001127255.2

p.K120Q

c.358A>C