Varaico: Literature-Extracted Genetic Variants

Gene:DCBLD2
Variant:p.I193T

DCBLD2

70 papers

Pfam Domains

CUBaa 72–184UCSCCUB domain
LCCLaa 187–285UCSCLCCL domain
F5_F8_type_Caa 307–446UCSCF5/8 type C domain

Gene Aliases

HGNC Name

discoidin, CUB and LCCL domain containing 2

HGNC Alias Symbol

ESDN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_080927.4
p.I193T
c.578T>C
Surrounding Variants
1 paper
NM_080927.4
p.E204fs
c.610_611fs
1 paper
NM_080927.4
p.Y210F
c.629A>T
1 paper
NM_080927.4
p.P218S
c.652C>T
2 papers
NM_080927.4
p.L250*
c.749T>A
1 paper
NM_080927.4
p.G252D
c.755G>A
2 papers
NM_080927.4
p.G261V
c.782G>T
1 paper
NM_080927.4
p.Y265C
c.794A>G
1 paper
NM_080927.4
p.G278E
c.833G>A
1 paper
NM_080927.4
p.G291V
c.872G>T
1 paper
NM_080927.4
p.P306P
c.918T>C
1 paper
NM_080927.4
p.S311*
c.932C>A
1 paper
NM_080927.4
p.I353L
c.1057A>T
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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."