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.P544fs

c.1630_1631fs

Surrounding Variants

1 paper

NM_001127255.2

p.P544L

c.1631C>T

1 paper

NM_001127255.2

p.M542fs

c.1624_1625fs

1 paper

NM_001127255.2

p.M542T

c.1625T>C

1 paper

NM_001127255.2

p.M542fs

c.1624_1625fs

1 paper

NM_001127255.2

p.R541fs

c.1621_1622fs

1 paper

NM_001127255.2

p.I546_K547del2

c.1636_1640del6

1 paper

NM_001127255.2

p.F538L

c.1614T>G

1 paper

NM_001127255.2

p.F538L

c.1614T>A

1 paper

NM_001127255.2

p.F538L

c.1612T>C

1 paper

NM_001127255.2

p.A555insFs

c.1663dupG

1 paper

NM_001127255.2

p.F523F

c.1569C>T

1 paper

NM_001127255.2

p.F523L

c.1569C>G