Varaico: Literature-Extracted Genetic Variants

Gene:DCBLD2
Variant:p.W27R

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.W27R
c.79T>A
Surrounding Variants
1 paper
NM_080927.4
p.W27ins2
c.79_80ins6
1 paper
NM_080927.4
p.A26_W27ins2
c.78_79ins6
1 paper
NM_080927.4
p.W27R
c.79T>C
1 paper
NM_080927.4
p.Q17_A26delFs
c.50_78del29
1 paper
NM_080927.4
p.W27L
c.80G>T
5 papers
NM_080927.4
p.W27*
c.80G>A
1 paper
NM_080927.4
p.A26_W27ins2
c.78_79ins6
5 papers
NM_080927.4
p.W27*
c.81G>A
1 paper
NM_080927.4
p.R19L
c.56G>T
1 paper
NM_080927.4
p.R19insFs
c.56_57insTT
1 paper
NM_080927.4
p.R19insFs
c.55_56insGT
1 paper
NM_080927.4
p.P16_Q17insFs
c.48_49insGT
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