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

3 papers

NM_001127255.2

p.C931*

c.2793T>A

Surrounding Variants

1 paper

NM_001127255.2

p.C931delFs

c.2791_2792delCA

1 paper

NM_001127255.2

p.N930_C931del2

c.2788_2792del6

1 paper

NM_001127255.2

p.H935Y

c.2803C>T

1 paper

NM_001127255.2

p.H935P

c.2804A>C

2 papers

NM_001127255.2

p.L926*

c.2777T>G

2 papers

NM_001127255.2

p.L926*

c.2777T>A

9 papers

NM_001127255.2

p.A925A

c.2775A>G

9 papers

NM_001127255.2

p.R937Splc

c.2810+2T>G

2 papers

NM_001127255.2

p.R937Splc

c.2810+2T>C

4 papers

NM_001127255.2

p.W920*

c.2760G>A

4 papers

NM_001127255.2

p.W920*

c.2759G>A

20 papers

NM_001127255.2

p.N913S

c.2738A>G