Varaico: Literature-Extracted Genetic Variants

Gene:DCBLD1
Variant:p.R247Q

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.R247Q
c.740G>A
Surrounding Variants
2 papers
NM_001366458.2
p.N253S
c.758A>G
1 paper
NM_001366458.2
p.S258C
c.773C>G
1 paper
NM_001366458.2
p.S260C
c.778A>T
1 paper
NM_001366458.2
p.S298*
c.893C>A
1 paper
NM_001366458.2
p.S298*
c.893C>G
2 papers
NM_001366458.2
p.S353Y
c.1058C>A
1 paper
NM_001366458.2
p.G360R
c.1078G>A
1 paper
NM_001366458.2
p.G360R
c.1078G>C
1 paper
NM_001366458.2
p.K367_V368Splc
c.1101+31G>C
1 paper
NM_001366458.2
p.V379M
c.1135G>A
1 paper
NM_001366458.2
p.K436del1
c.1306_1307delAAA
1 paper
NM_001366458.2
p.P446L
c.1337C>T
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