Varaico: Literature-Extracted Genetic Variants

Gene:PYCARD
Variant:p.A4E

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.A4E
c.11C>A
Surrounding Variants
2 papers
NM_013258.5
p.A4A
c.12G>A
1 paper
NM_013258.5
p.R5C
c.13C>T
1 paper
NM_013258.5
p.R5S
c.13C>A
1 paper
NM_013258.5
p.R5H
c.14G>A
1 paper
NM_013258.5
p.M1insFs
c.2dupT
1 paper
NM_013258.5
p.M1T
c.2T>C
1 paper
NM_013258.5
p.M1V
c.1A>G
5 papers
NM_013258.5
p.D10A
c.29A>C
1 paper
NM_013258.5
p.L12L
c.34C>T
1 paper
NM_013258.5
p.L12P
c.35T>C
1 paper
NM_013258.5
p.E13K
c.37G>A
7 papers
NM_013258.5
p.E13A
c.38A>C
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