Varaico: Literature-Extracted Genetic Variants

Gene:PYCARD
Variant:p.D48E

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.D48E
c.144C>A
Surrounding Variants
1 paper
NM_013258.5
p.D48E
c.144C>G
9 papers
NM_013258.5
p.D48A
c.143A>C
4 papers
NM_013258.5
p.D48N
c.142G>A
1 paper
NM_013258.5
p.M47_D48insFs
c.141_142insC
1 paper
NM_013258.5
p.D51H
c.151G>C
1 paper
NM_013258.5
p.D51N
c.151G>A
6 papers
NM_013258.5
p.D51A
c.152A>C
1 paper
NM_013258.5
p.D51E
c.153C>G
1 paper
NM_013258.5
p.D51E
c.153C>A
1 paper
NM_013258.5
p.T53A
c.157A>G
3 papers
NM_013258.5
p.D54A
c.161A>C
1 paper
NM_013258.5
p.G42_A43insFs
c.126_127insAA
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