Varaico: Literature-Extracted Genetic Variants

Gene:ADAM10
Variant:p.D146E

ADAM10

266 papers

RefSeq Summary

Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many protein...

Pfam Domains

Reprolysin_2aa 239–446UCSCMetallo-peptidase family M12B Reprolysin-like
Disintegrinaa 466–546UCSCDisintegrin
ADAM10_Cys-richaa 591–646UCSCADAM10, cysteine-rich domain

Gene Aliases

HGNC Name

ADAM metallopeptidase domain 10

HGNC Alias Symbols

kuz; MADM; HsT18717; CD156C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001110.4
p.D146E
c.438C>G
Surrounding Variants
1 paper
NM_001110.4
p.D146E
c.438C>A
1 paper
NM_001110.4
p.D146A
c.437A>C
1 paper
NM_001110.4
p.R147Q
c.440G>A
1 paper
NM_001110.4
p.I144V
c.430A>G
1 paper
NM_001110.4
p.Y143*
c.429T>G
1 paper
NM_001110.4
p.Y143*
c.429T>A
1 paper
NM_001110.4
p.R142fs
c.424_425fs
1 paper
NM_001110.4
p.P150delFs
c.448_449delGG
1 paper
NM_001110.4
p.R142insFs
c.425_426ins5
1 paper
NM_001110.4
p.R142insFs
c.424_425ins5
1 paper
NM_001110.4
p.H152insFs
c.456dupC
1 paper
NM_001110.4
p.H152delFs
c.456delG
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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."