Varaico: Literature-Extracted Genetic Variants

Gene:ADAM10
Variant:p.A252V

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
2 papers
NM_001110.4
p.A252V
c.755C>T
Surrounding Variants
1 paper
NM_001110.4
p.A252T
c.754G>A
2 papers
NM_001110.4
p.T255S
c.763A>T
6 papers
NM_001110.4
p.T255A
c.763A>G
1 paper
NM_001110.4
p.T255I
c.764C>T
1 paper
NM_001110.4
p.T255K
c.764C>A
2 papers
NM_001110.4
p.S248G
c.742A>G
1 paper
NM_001110.4
p.S247P
c.739T>C
1 paper
NM_001110.4
p.I246L
c.736A>T
1 paper
NM_001110.4
p.I246L
c.736A>C
1 paper
NM_001110.4
p.T259A
c.775A>G
1 paper
NM_001110.4
p.D261N
c.781G>A
1 paper
NM_001110.4
p.G264R
c.790G>C
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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."