Varaico: Literature-Extracted Genetic Variants

Gene:PYCARD
Variant:p.E13A

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
7 papers
NM_013258.5
p.E13A
c.38A>C
Surrounding Variants
1 paper
NM_013258.5
p.E13K
c.37G>A
1 paper
NM_013258.5
p.L12P
c.35T>C
1 paper
NM_013258.5
p.L12L
c.34C>T
5 papers
NM_013258.5
p.D10A
c.29A>C
3 papers
NM_013258.5
p.E18A
c.53A>C
1 paper
NM_013258.5
p.E19Q
c.55G>C
1 paper
NM_013258.5
p.E19K
c.55G>A
3 papers
NM_013258.5
p.E19A
c.56A>C
1 paper
NM_013258.5
p.E19del1
c.55_57delCTC
4 papers
NM_013258.5
p.K21E
c.61A>G
2 papers
NM_013258.5
p.K21Q
c.61A>C
1 paper
NM_013258.5
p.R5H
c.14G>A
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