Varaico: Literature-Extracted Genetic Variants

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.R131C

c.391C>T

Surrounding Variants

1 paper

NM_001110.4

p.R131H

c.392G>A

1 paper

NM_001110.4

p.T130I

c.389C>T

1 paper

NM_001110.4

p.Q129*

c.385C>T

1 paper

NM_001110.4

p.Q129E

c.385C>G

2 papers

NM_001110.4

p.G133A

c.398G>C

1 paper

NM_001110.4

p.G133D

c.398G>A

1 paper

NM_001110.4

p.I128M

c.384C>G

1 paper

NM_001110.4

p.F127C

c.380T>G

1 paper

NM_001110.4

p.F127V

c.379T>G

1 paper

NM_001110.4

p.T134_Y136Fs

c.401_406delinsTCFs

1 paper

NM_001110.4

p.Y136Fs

c.406delinsTCFs

2 papers

NM_001110.4

p.V137I

c.409G>A