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.I368I

c.1104T>C

Surrounding Variants

3 papers

NM_001127255.2

p.I368M

c.1104T>G

1 paper

NM_001127255.2

p.C370S

c.1108T>A

1 paper

NM_001127255.2

p.C370S

c.1109G>C

1 paper

NM_001127255.2

p.T371S

c.1111A>T

1 paper

NM_001127255.2

p.T372A

c.1114A>G

1 paper

NM_001127255.2

p.A364V

c.1091C>T

1 paper

NM_001127255.2

p.L375fs

c.1123_1124fs

1 paper

NM_001127255.2

p.L375P

c.1124T>C

1 paper

NM_001127255.2

p.L375insFs

c.1124dupT

4 papers

NM_001127255.2

p.S361L

c.1082C>T

10 papers

NM_001127255.2

p.K379N

c.1137G>T

11 papers

NM_001127255.2

p.K379N

c.1137G>C