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

2 papers

NM_001127255.2

p.L234S

c.701T>C

Surrounding Variants

4 papers

NM_001127255.2

p.W231*

c.693G>A

4 papers

NM_001127255.2

p.W231*

c.692G>A

1 paper

NM_001127255.2

p.L226L

c.678G>T

1 paper

NM_001127255.2

p.A243G

c.728C>G

1 paper

NM_001127255.2

p.Q246E

c.736C>G

1 paper

NM_001127255.2

p.C221fs

c.661_662fs

3 papers

NM_001127255.2

p.F250L

c.748T>C

4 papers

NM_001127255.2

p.F250C

c.749T>G

1 paper

NM_001127255.2

p.F250F

c.750C>T

3 papers

NM_001127255.2

p.F250L

c.750C>G

3 papers

NM_001127255.2

p.F250L

c.750C>A

1 paper

NM_001127255.2

p.M218L

c.652A>T