Varaico: Literature-Extracted Genetic Variants

Gene:DCBLD2

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
1–12 of 79 variants
5 papers
NM_080927.4
p.W27*
c.80G>A
5 papers
NM_080927.4
p.W27*
c.81G>A
4 papers
NM_080927.4
p.D723N
c.2167G>A
3 papers
NM_080927.4
p.I144M
c.432A>G
2 papers
NM_080927.4
p.L250*
c.749T>A
2 papers
NM_080927.4
p.G261V
c.782G>T
2 papers
NM_080927.4
p.N356S
c.1067A>G
2 papers
NM_080927.4
p.N419D
c.1255A>G
2 papers
NM_080927.4
p.Q435delFs
c.1303delG
2 papers
NM_080927.4
p.Q435fs
c.1303_1304fs
2 papers
NM_080927.4
p.R485H
c.1454G>A
2 papers
NM_080927.4
p.I514F
c.1540A>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."