Varaico: Literature-Extracted Genetic Variants

Gene:ADAM10
Variant:p.A315V

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.A315V
c.944C>T
Surrounding Variants
1 paper
NM_001110.4
p.H309R
c.926A>G
1 paper
NM_001110.4
p.N308I
c.923A>T
1 paper
NM_001110.4
p.D322insFs
c.965_966insC
1 paper
NM_001110.4
p.N308Y
c.922A>T
1 paper
NM_001110.4
p.E306K
c.916G>A
1 paper
NM_001110.4
p.D325insFs
c.973dupG
1 paper
NM_001110.4
p.V327I
c.979G>A
1 paper
NM_001110.4
p.G329D
c.986G>A
1 paper
NM_001110.4
p.K299M
c.896A>T
1 paper
NM_001110.4
p.K299R
c.896A>G
1 paper
NM_001110.4
p.W332G
c.994T>G
1 paper
NM_001110.4
p.V333F
c.997G>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."