Varaico: Literature-Extracted Genetic Variants

Gene:PYCARD

PYCARD

203 papers

RefSeq Summary

This gene encodes an adaptor protein that is composed of two protein-protein interaction domains: a N-terminal PYRIN-PAAD-DAPIN domain (PYD) and a C-terminal caspase-recruitment domain (CARD). The PYD...

Pfam Domains

PYRINaa 7–83UCSCPAAD/DAPIN/Pyrin domain
CARDaa 112–195UCSCCaspase recruitment domain

Gene Aliases

HGNC Name

PYD and CARD domain containing

HGNC Alias Symbols

TMS-1; CARD5; ASC

Papers
RefSeq ID
Protein change
DNA change
1–12 of 112 variants
9 papers
NM_013258.5
p.D48A
c.143A>C
7 papers
NM_013258.5
p.E13A
c.38A>C
6 papers
NM_013258.5
p.D51A
c.152A>C
6 papers
NM_013258.5
p.E67A
c.200A>C
5 papers
NM_013258.5
p.D10A
c.29A>C
4 papers
NM_013258.5
p.K21E
c.61A>G
4 papers
NM_013258.5
p.D48N
c.142G>A
4 papers
NM_013258.5
p.E80A
c.239A>C
3 papers
NM_013258.5
p.E18A
c.53A>C
3 papers
NM_013258.5
p.E19A
c.56A>C
3 papers
NM_013258.5
p.K22E
c.64A>G
3 papers
NM_013258.5
p.E34A
c.101A>C
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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."