Varaico: Literature-Extracted Genetic Variants

Gene:NLRP1

NLRP1

502 papers

RefSeq Summary

This gene encodes a member of the Ced-4 family of apoptosis proteins. Ced-family members contain a caspase recruitment domain (CARD) and are known to be key mediators of programmed cell death. The enc...

Pfam Domains

PYRINaa 8–84UCSCPAAD/DAPIN/Pyrin domain
NACHTaa 328–497UCSCNACHT domain
WHD_NOD2aa 566–621UCSCNOD2 winged helix domain
NLRC4_HD2aa 623–733UCSCNLRC4 helical domain HD2
LRR_6aa 863–886UCSCLeucine Rich repeat
LRR_6aa 920–943UCSCLeucine Rich repeat

Gene Aliases

HGNC Name

NLR family pyrin domain containing 1

HGNC Previous Symbols

NALP1; SLEV1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 435 variants
58 papers
NM_033004.4
p.L155H
c.464T>A
25 papers
NM_033004.4
p.M1184V
c.3550A>G
24 papers
NM_033004.4
p.M77T
c.230T>C
24 papers
NM_033004.4
p.P1214R
c.3641C>G
18 papers
NM_033004.4
p.A66V
c.197C>T
17 papers
NM_033004.4
p.A54T
c.160G>A
16 papers
NM_033004.4
p.R726W
c.2176C>T
12 papers
NM_033004.4
p.T755N
c.2264C>A
10 papers
NM_033004.4
p.K18M
c.53A>T
10 papers
NM_033004.4
p.T246S
c.736A>T
10 papers
NM_033004.4
p.T246S
c.737C>G
10 papers
NM_033004.4
p.T878M
c.2633C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."