Varaico: Literature-Extracted Genetic Variants

Gene:DCBLD1
Variant:p.G487R

DCBLD1

44 papers

Pfam Domains

CUBaa 41–147UCSCCUB domain
LCCLaa 156–248UCSCLCCL domain
F5_F8_type_Caa 266–409UCSCF5/8 type C domain

Gene Aliases

HGNC Name

discoidin, CUB and LCCL domain containing 1

HGNC Alias Symbols

MGC46341; dJ94G16.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001366458.2
p.G487R
c.1459G>C
Surrounding Variants
1 paper
NM_001366458.2
p.G487R
c.1459G>A
1 paper
NM_001366458.2
p.L532L
c.1596C>T
1 paper
NM_001366458.2
p.K482Splc
c.1445+67A>C
1 paper
NM_001366458.2
p.V468del1
c.1402_1403delGTC
1 paper
NM_001366458.2
p.L466R
c.1397T>G
1 paper
NM_001366458.2
p.V464L
c.1390G>C
1 paper
NM_001366458.2
p.V464L
c.1390G>T
1 paper
NM_001366458.2
p.L463fs
c.1387_1388fs
1 paper
NM_001366458.2
p.I461S
c.1382T>G
1 paper
NM_001366458.2
p.Y540F
c.1619A>T
1 paper
NM_001366458.2
p.Y578F
c.1733A>T
1 paper
NM_001366458.2
p.Y589F
c.1766A>T
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