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

7 papers

NM_001127255.2

p.C399Y

c.1196G>A

Surrounding Variants

9 papers

NM_001127255.2

p.L398R

c.1193T>G

1 paper

NM_001127255.2

p.F394_L395del2

c.1180_1184del6

6 papers

NM_001127255.2

p.R390H

c.1169G>A

1 paper

NM_001127255.2

p.R390delFs

c.1168delG

1 paper

NM_001127255.2

p.R390C

c.1168C>T

3 papers

NM_001127255.2

p.R390fs

c.1168_1169fs

1 paper

NM_001127255.2

p.A411E

c.1232C>A

1 paper

NM_001127255.2

p.T386ins0

c.1156_1158dupACC

2 papers

NM_001127255.2

p.L412P

c.1235T>C

3 papers

NM_001127255.2

p.R413W

c.1237C>T

2 papers

NM_001127255.2

p.R413Q

c.1238G>A

1 paper

NM_001127255.2

p.T414M

c.1241C>T