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.L415L

c.1245G>A

Surrounding Variants

1 paper

NM_001127255.2

p.T414M

c.1241C>T

2 papers

NM_001127255.2

p.R413Q

c.1238G>A

3 papers

NM_001127255.2

p.R413W

c.1237C>T

2 papers

NM_001127255.2

p.L412P

c.1235T>C

1 paper

NM_001127255.2

p.A420T

c.1258G>A

1 paper

NM_001127255.2

p.A411E

c.1232C>A

2 papers

NM_001127255.2

p.Q421*

c.1261C>T

1 paper

NM_001127255.2

p.Q421H

c.1263G>T

1 paper

NM_001127255.2

p.Q421H

c.1263G>C

1 paper

NM_001127255.2

p.L423M

c.1267C>A

1 paper

NM_001127255.2

p.M427L

c.1279A>T

1 paper

NM_001127255.2

p.M427L

c.1279A>C