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.L680L

c.2040G>C

Surrounding Variants

3 papers

NM_001127255.2

p.L677delFs

c.2030delA

1 paper

NM_001127255.2

p.L677P

c.2030T>C

2 papers

NM_001127255.2

p.S675T

c.2024G>C

6 papers

NM_001127255.2

p.S673*

c.2018C>G

6 papers

NM_001127255.2

p.S673*

c.2018C>A

5 papers

NM_001127255.2

p.L670_F671delFs

c.2010_2011delAG

5 papers

NM_001127255.2

p.F671fs

c.2011_2012fs

2 papers

NM_001127255.2

p.S691F

c.2072C>T

1 paper

NM_001127255.2

p.S669delFs

c.2006delG

26 papers

NM_001127255.2

p.R693W

c.2077C>T

1 paper

NM_001127255.2

p.R693G

c.2077C>G

2 papers

NM_001127255.2

p.C668R

c.2002T>C