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

26 papers

NM_001127255.2

p.R693W

c.2077C>T

Surrounding Variants

1 paper

NM_001127255.2

p.R693G

c.2077C>G

21 papers

NM_001127255.2

p.R693P

c.2078G>C

NM_139176.4

p.R665P

c.1994G>C

11 papers

NM_001127255.2

p.R693Q

c.2078G>A

1 paper

NM_001127255.2

p.I694V

c.2080A>G

2 papers

NM_001127255.2

p.S691F

c.2072C>T

1 paper

NM_139176.4

p.C668R

c.2002T>C

1 paper

NM_001127255.2

p.D697Y

c.2089G>T

1 paper

NM_001127255.2

p.D697delFs

c.2090_2091delGT

5 papers

NM_001127255.2

p.V699I

c.2095G>A

7 papers

NM_001127255.2

p.R701C

c.2101C>T

1 paper

NM_001127255.2

p.C704Y

c.2111G>A

1 paper

NM_001127255.2

p.L680L

c.2040G>C