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.H735P

c.2204A>C

Surrounding Variants

2 papers

NM_001127255.2

p.E743*

c.2227G>T

2 papers

NM_001127255.2

p.E743K

c.2227G>A

1 paper

NM_001127255.2

p.R746delFs

c.2237delC

1 paper

NM_001127255.2

p.F723delFs

c.2167_2168delAA

12 papers

NM_001127255.2

p.D722G

c.2165A>G

1 paper

NM_139176.4

p.R693P

c.2078G>C

1 paper

NM_001127255.2

p.R721Q

c.2162G>A

18 papers

NM_001127255.2

p.R721W

c.2161C>T

NM_139176.4

p.R693W

c.2077C>T

20 papers

NM_001127255.2

p.L750V

c.2248C>G

1 paper

NM_001127255.2

p.A719A

c.2157G>A

19 papers

NM_001127255.2

p.A719V

c.2156C>T

1 paper

NM_001127255.2

p.A719T

c.2155G>A