Varaico: Literature-Extracted Genetic Variants

Gene:ADAM10
Variant:p.E522G

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.E522G
c.1565A>G
Surrounding Variants
1 paper
NM_001110.4
p.S521P
c.1561T>C
1 paper
NM_001110.4
p.K523fs
c.1567_1568fs
4 papers
NM_001110.4
p.C524Y
c.1571G>A
1 paper
NM_001110.4
p.R525W
c.1573C>T
1 paper
NM_001110.4
p.S519S
c.1557A>C
1 paper
NM_001110.4
p.R525Q
c.1574G>A
1 paper
NM_001110.4
p.S519L
c.1556C>T
1 paper
NM_001110.4
p.S519T
c.1555T>A
1 paper
NM_001110.4
p.D526N
c.1576G>A
1 paper
NM_001110.4
p.K518R
c.1553A>G
1 paper
NM_001110.4
p.E522_R525del4
c.1564_1574del12
1 paper
NM_001110.4
p.D527N
c.1579G>A
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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."