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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ECSCR

Variant:p.A6V

ECSCR

17 papers

RefSeq Summary

The protein encoded by this gene is primarily found in endothelial cells and blood vessels, where it is involved in cell shape changes and EGF-induced cell migration. It can enhance the activation of ...

Pfam Domains

ECSCRaa 101–203UCSCEndothelial cell-specific chemotaxis regulator

Gene Aliases

HGNC Name

endothelial cell surface expressed chemotaxis and apoptosis regulator

HGNC Alias Symbols

ECSM2; ARIA

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr5:139462654 G>A

NM_001077693.4

p.A6V

c.17C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a50 overlapping SVs

Surrounding Variants

1 paper

chr5:139458175 A>AC

NM_001077693.4

p.S24insFs

c.70_71insG

exact variant not in gnomAD51 overlapping SVs

1 paper

chr5:139454917 A>T

NM_001077693.4

p.I128N

c.383T>A

ECSCR

Exome: n/aGenome: 0.0% (AC=1, hom=0)53 overlapping SVs

1 paper

chr5:139454902 A>T

NM_001077693.4

p.I133N

c.398T>A

ECSCR

exact variant not in gnomAD53 overlapping SVs

1 paper

chr5:139454840 T>TC

NM_001077693.4

p.K153_S154insFs

c.459_460insG

ECSCR

exact variant not in gnomAD53 overlapping SVs

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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."