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

14 papers

NM_001127255.2

p.K511R

c.1532A>G

Surrounding Variants

1 paper

NM_001127255.2

p.N512fs

c.1534_1535fs

1 paper

NM_001127255.2

p.K511delFs

c.1533delC

2 papers

NM_001127255.2

p.E508fs

c.1522_1523fs

1 paper

NM_001127255.2

p.E507V

c.1520A>T

1 paper

NM_001127255.2

p.G506insFs

c.1517_1518ins22

2 papers

NM_001127255.2

p.G506*

c.1516G>T

1 paper

NM_001127255.2

p.G519E

c.1556G>A

1 paper

NM_001127255.2

p.G519delFs

c.1557delT

3 papers

NM_001127255.2

p.H520fs

c.1558_1559fs

1 paper

NM_001127255.2

p.F523L

c.1567T>C

1 paper

NM_001127255.2

p.I516_L522insFs

c.1548_1566dup19

1 paper

NM_001127255.2

p.F523F

c.1569C>T