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

2 papers

NM_001127255.2

p.E113insFs

c.337_338insG

Surrounding Variants

1 paper

NM_001127255.2

p.E113fs

c.337_338fs

1 paper

NM_001127255.2

p.D111Y

c.331G>T

3 papers

NM_001127255.2

p.K116*

c.346A>T

1 paper

NM_001127255.2

p.E110V

c.329A>T

9 papers

NM_001127255.2

p.G118Splc

c.352+1G>A

1 paper

NM_001127255.2

p.G106delFs

c.317_318delTC

1 paper

NM_001127255.2

p.L105P

c.314T>C

1 paper

NM_001127255.2

p.P103A

c.307C>G

2 papers

NM_001127255.2

p.D101V

c.302A>T

1 paper

NM_001127255.2

p.I100fs

c.298_299fs

15 papers

NM_001127255.2

p.E99*

c.295G>T

2 papers

NM_001127255.2

p.V97A

c.290T>C