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

4 papers

NM_001127255.2

p.R815H

c.2444G>A

Surrounding Variants

2 papers

NM_001127255.2

p.L820fs

c.2458_2459fs

1 paper

NM_001127255.2

p.L809P

c.2426T>C

7 papers

NM_001127255.2

p.L823*

c.2468T>A

16 papers

NM_001127255.2

p.S824Splc

c.2471+1G>A

1 paper

NM_139176.4

p.E776fs

c.2326_2327fs

1 paper

NM_001127255.2

p.N799S

c.2396A>G

1 paper

NM_001127255.2

p.A798_N799insG

c.2392_2396ins3

1 paper

NM_001127255.2

p.A798fs

c.2392_2393fs

1 paper

NM_001127255.2

p.S797delFs

c.2389_2390delGA

1 paper

NM_139176.4

p.L768delFs

c.2303delA

1 paper

NM_001127255.2

p.R795H

c.2384G>A

2 papers

NM_001127255.2

p.R795C

c.2383C>T