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.L435Q

c.1304T>A

Surrounding Variants

1 paper

NM_001127255.2

p.D434D

c.1302C>T

1 paper

NM_001127255.2

p.R432L

c.1295G>T

11 papers

NM_001127255.2

p.R432*

c.1294C>T

1 paper

NM_001127255.2

p.F430F

c.1290C>T

3 papers

NM_001127255.2

p.F430L

c.1290C>G

3 papers

NM_001127255.2

p.F430L

c.1290C>A

1 paper

NM_001127255.2

p.V429_F430delFs

c.1286_1289del4

3 papers

NM_001127255.2

p.F430L

c.1288T>C

1 paper

NM_001127255.2

p.Q441R

c.1322A>G

2 papers

NM_001127255.2

p.V429fs

c.1285_1286fs

4 papers

NM_001127255.2

p.M427T

c.1280T>C

1 paper

NM_001127255.2

p.M427L

c.1279A>T