Varaico: Literature-Extracted Genetic Variants

Gene:DCBLD2
Variant:p.N419D

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
2 papers
NM_080927.4
p.N419D
c.1255A>G
Surrounding Variants
1 paper
NM_080927.4
p.V416A
c.1247T>C
1 paper
NM_080927.4
p.Q414E
c.1240C>G
1 paper
NM_080927.4
p.R427H
c.1280G>A
1 paper
NM_080927.4
p.R430_N432del0
c.1289_1294del6
1 paper
NM_080927.4
p.P433S
c.1297C>T
2 papers
NM_080927.4
p.Q435delFs
c.1303delG
2 papers
NM_080927.4
p.Q435fs
c.1303_1304fs
1 paper
NM_080927.4
p.A441V
c.1322C>T
1 paper
NM_080927.4
p.P457_P458del1
c.1371_1373delGGA
1 paper
NM_080927.4
p.T461I
c.1382C>T
1 paper
NM_080927.4
p.P464L
c.1391C>T
1 paper
NM_080927.4
p.G484A
c.1451G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."