Varaico: Literature-Extracted Genetic Variants

Gene:PYCARD
Variant:p.G65delFs

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
Selected Variant
1 paper
NM_013258.5
p.G65delFs
c.193delC
Surrounding Variants
2 papers
NM_013258.5
p.A66V
c.197C>T
1 paper
NM_013258.5
p.Y64_G65insFs
c.192_193insG
1 paper
NM_013258.5
p.E67Q
c.199G>C
1 paper
NM_013258.5
p.E67V
c.200A>T
6 papers
NM_013258.5
p.E67A
c.200A>C
2 papers
NM_013258.5
p.T63A
c.187A>G
3 papers
NM_013258.5
p.E62A
c.185A>C
1 paper
NM_013258.5
p.E62Q
c.184G>C
1 paper
NM_013258.5
p.Y60H
c.178T>C
1 paper
NM_013258.5
p.V72L
c.214G>T
1 paper
NM_013258.5
p.V72M
c.214G>A
1 paper
NM_013258.5
p.D75A
c.224A>C
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