Varaico: Literature-Extracted Genetic Variants

Gene:PYCARD
Variant:p.F23L

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.F23L
c.69C>G
Surrounding Variants
1 paper
NM_013258.5
p.F23L
c.69C>A
1 paper
NM_013258.5
p.F23C
c.68T>G
1 paper
NM_013258.5
p.F23L
c.67T>C
1 paper
NM_013258.5
p.K24R
c.71A>G
1 paper
NM_013258.5
p.K22R
c.65A>G
3 papers
NM_013258.5
p.K22E
c.64A>G
2 papers
NM_013258.5
p.K26E
c.76A>G
2 papers
NM_013258.5
p.K21R
c.62A>G
1 paper
NM_013258.5
p.K26Q
c.76A>C
4 papers
NM_013258.5
p.K21E
c.61A>G
2 papers
NM_013258.5
p.K26R
c.77A>G
2 papers
NM_013258.5
p.K21Q
c.61A>C
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