Varaico: Literature-Extracted Genetic Variants

Gene:DCBLD2
Variant:p.D723N

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
4 papers
NM_080927.4
p.D723N
c.2167G>A
Surrounding Variants
1 paper
NM_080927.4
p.Y715C
c.2144A>G
1 paper
NM_080927.4
p.T714I
c.2141C>T
1 paper
NM_080927.4
p.Y732F
c.2195A>T
1 paper
NM_080927.4
p.G705G
c.2115G>A
1 paper
NM_080927.4
p.P745Q
c.2234C>A
2 papers
NM_080927.4
p.Y750F
c.2249A>T
1 paper
NM_080927.4
p.S760*
c.2279C>G
1 paper
NM_080927.4
p.S760*
c.2279C>A
1 paper
NM_080927.4
p.Y677F
c.2030A>T
1 paper
NM_080927.4
p.I672V
c.2014A>G
2 papers
NM_080927.4
p.I774N
c.2321T>A
1 paper
NM_080927.4
p.Y666F
c.1997A>T
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