Varaico: Literature-Extracted Genetic Variants

Gene:CD248
Variant:p.S518L

CD248

90 papers

Pfam Domains

Lectin_Caa 40–158UCSCLectin C-type domain
THBDaa 161–228UCSCThrombomodulin-like domain
FXa_inhibitionaa 235–271UCSCCoagulation Factor Xa inhibitory site

Gene Aliases

HGNC Name

CD248 molecule

HGNC Previous Symbol

CD164L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_020404.3
p.S518L
c.1553C>T
Surrounding Variants
1 paper
NM_020404.3
p.H512Y
c.1534C>T
1 paper
NM_020404.3
p.P509L
c.1526C>T
1 paper
NM_020404.3
p.Y496N
c.1486T>A
1 paper
NM_020404.3
p.T541S
c.1621A>T
1 paper
NM_020404.3
p.T541S
c.1622C>G
1 paper
NM_020404.3
p.A486T
c.1456G>A
1 paper
NM_020404.3
p.V484M
c.1450G>A
1 paper
NM_020404.3
p.A563_Q564ins4
c.1687_1691ins12
1 paper
NM_020404.3
p.H473Y
c.1417C>T
3 papers
NM_020404.3
p.H457R
c.1370A>G
3 papers
NM_020404.3
p.S443del1
c.1327_1328delTGA
3 papers
NM_020404.3
p.S442_S443del1
c.1326_1328delGAG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."