Varaico: Literature-Extracted Genetic Variants

Gene:ADAM10
Variant:p.F517L

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.F517L
c.1549T>C
Surrounding Variants
1 paper
NM_001110.4
p.F517L
c.1551C>G
1 paper
NM_001110.4
p.F517L
c.1551C>A
1 paper
NM_001110.4
p.A516T
c.1546G>A
1 paper
NM_001110.4
p.K518R
c.1553A>G
1 paper
NM_001110.4
p.S519T
c.1555T>A
1 paper
NM_001110.4
p.S519L
c.1556C>T
1 paper
NM_001110.4
p.S519S
c.1557A>C
1 paper
NM_001110.4
p.A513E
c.1538C>A
1 paper
NM_001110.4
p.S521P
c.1561T>C
1 paper
NM_001110.4
p.E522G
c.1565A>G
1 paper
NM_001110.4
p.K523fs
c.1567_1568fs
4 papers
NM_001110.4
p.C524Y
c.1571G>A
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