Varaico: Literature-Extracted Genetic Variants

Gene:ADAM10
Variant:p.V190A

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.V190A
c.569T>C
Surrounding Variants
1 paper
NM_001110.4
p.V190I
c.568G>A
1 paper
NM_001110.4
p.E191K
c.571G>A
1 paper
NM_001110.4
p.E191G
c.572A>G
1 paper
NM_001110.4
p.G189fs
c.565_566fs
1 paper
NM_001110.4
p.E191D
c.573G>T
1 paper
NM_001110.4
p.E191D
c.573G>C
1 paper
NM_001110.4
p.E192fs
c.574_575fs
1 paper
NM_001110.4
p.T188S
c.563C>G
1 paper
NM_001110.4
p.T188N
c.563C>A
1 paper
NM_001110.4
p.E192insFs
c.575_576insCC
1 paper
NM_001110.4
p.T188_E192delFs
c.564_574del11
1 paper
NM_001110.4
p.T188S
c.562A>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."