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.R767S

c.2301G>T

Surrounding Variants

1 paper

NM_001127255.2

p.R767S

c.2301G>C

1 paper

NM_001127255.2

p.L768delFs

c.2303delA

1 paper

NM_001127255.2

p.G769*

c.2305G>T

2 papers

NM_001127255.2

p.P775S

c.2323C>T

1 paper

NM_001127255.2

p.P775L

c.2324C>T

1 paper

NM_001127255.2

p.P775insFs

c.2324dupC

3 papers

NM_001127255.2

p.E776fs

c.2326_2327fs

4 papers

NM_001127255.2

p.W778*

c.2333G>A

4 papers

NM_001127255.2

p.W778*

c.2334G>A

1 paper

NM_001127255.2

p.E776_W778delFs

c.2327_2333del7

1 paper

NM_001127255.2

p.L785F

c.2353C>T

2 papers

NM_001127255.2

p.R795C

c.2383C>T