Varaico: Literature-Extracted Genetic Variants

Gene:ADAM10
Variant:p.F114L

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.F114L
c.342T>A
Surrounding Variants
1 paper
NM_001110.4
p.F114L
c.342T>G
1 paper
NM_001110.4
p.S115G
c.343A>G
1 paper
NM_001110.4
p.F114L
c.340T>C
1 paper
NM_001110.4
p.S113R
c.339T>G
1 paper
NM_001110.4
p.S113R
c.339T>A
1 paper
NM_001110.4
p.S113I
c.338G>T
1 paper
NM_001110.4
p.H116R
c.347A>G
1 paper
NM_001110.4
p.S113R
c.337A>C
1 paper
NM_001110.4
p.G112delFs
c.335delC
1 paper
NM_001110.4
p.G117V
c.350G>T
1 paper
NM_001110.4
p.G112fs
c.334_335fs
1 paper
NM_001110.4
p.E111D
c.333A>T
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