Varaico: Literature-Extracted Genetic Variants

Gene:SCFD2
Variant:p.D490E

SCFD2

52 papers

Pfam Domains

Sec1aa 317–668UCSCSec1 family

Gene Aliases

HGNC Name

sec1 family domain containing 2

HGNC Alias Symbols

STXBP1L1; FLJ39514

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_152540.4
p.D490E
c.1470C>G
Surrounding Variants
1 paper
NM_152540.4
p.D490E
c.1470C>A
1 paper
NM_152540.4
p.T482S
c.1445C>G
1 paper
NM_152540.4
p.V481F
c.1441G>T
1 paper
NM_152540.4
p.S480F
c.1439C>T
1 paper
NM_152540.4
p.A503V
c.1508C>T
1 paper
NM_152540.4
p.Y477F
c.1430A>T
4 papers
NM_152540.4
p.L512S
c.1535T>C
1 paper
NM_152540.4
p.N463N
c.1389C>T
1 paper
NM_152540.4
p.K456K
c.1368G>A
1 paper
NM_152540.4
p.S445F
c.1334C>T
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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."