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.V281I

c.841G>A

Surrounding Variants

1 paper

NM_001127255.2

p.V279L

c.835G>T

1 paper

NM_001127255.2

p.V279L

c.835G>C

1 paper

NM_001127255.2

p.P280_L282delFs

c.839_846del8

3 papers

NM_001127255.2

p.K277Q

c.829A>C

1 paper

NM_001127255.2

p.R289K

c.866G>A

1 paper

NM_001127255.2

p.A295P

c.883G>C

1 paper

NM_001127255.2

p.Q267fs

c.799_800fs

1 paper

NM_001127255.2

p.Q267*

c.799C>T

1 paper

NM_001127255.2

p.Q267E

c.799C>G

1 paper

NM_001127255.2

p.I266_Q267insFs

c.798_799insG

1 paper

NM_001127255.2

p.A264V

c.791C>T

1 paper

NM_001127255.2

p.A264E

c.791C>A