Varaico: Literature-Extracted Genetic Variants

Gene:CD248

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
1–12 of 92 variants
7 papers
NM_020404.3
p.P228L
c.683C>T
4 papers
NM_020404.3
p.T755I
c.2264C>T
3 papers
NM_020404.3
p.S442_S443del1
c.1326_1328delGAG
3 papers
NM_020404.3
p.S443del1
c.1327_1328delTGA
3 papers
NM_020404.3
p.H457R
c.1370A>G
2 papers
NM_020404.3
p.L6F
c.18G>T
2 papers
NM_020404.3
p.L6F
c.18G>C
2 papers
NM_020404.3
p.H244Y
c.730C>T
2 papers
NM_020404.3
p.S518L
c.1553C>T
2 papers
NM_020404.3
p.S756R
c.2266A>C
2 papers
NM_020404.3
p.S756R
c.2268C>G
2 papers
NM_020404.3
p.S756R
c.2268C>A
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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."