Varaico: Literature-Extracted Genetic Variants

OTOG

208 papers

RefSeq Summary

The protein encoded by this gene is a component of the acellular membranes of the inner ear. Disruption of the orthologous mouse gene shows that it plays a role in auditory and vestibular functions. I...

Pfam Domains

OTOGL_Naa 114–143UCSCOtogelin-like N-terminal

VWDaa 152–302UCSCvon Willebrand factor type D domain

C8aa 349–417UCSCC8 domain

VWFaa 481–508UCSCVon Willebrand factor-like domain

VWDaa 514–669UCSCvon Willebrand factor type D domain

C8aa 712–777UCSCC8 domain

Gene Aliases

HGNC Name

otogelin

HGNC Alias Symbols

mlemp; OTGN; FLJ46346

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001292063.2

p.A112A

c.336C>A

Surrounding Variants

9 papers

NM_001292063.2

p.H110Q

c.330C>G

1 paper

NM_001277269.2

p.C128W

c.384C>G

2 papers

NM_001292063.2

p.N104S

c.311A>G

1 paper

NM_001277269.2

p.G135R

c.403G>A

2 papers

NM_001292063.2

p.P124R

c.371C>G

1 paper

NM_001292063.2

p.F100L

c.300C>A

1 paper

NM_001292063.2

p.F100L

c.300C>G

1 paper

NM_001292063.2

p.F100L

c.298T>C

4 papers

NM_001277269.2

p.Y110*

c.330C>G

1 paper

NM_001277269.2

p.M140delFs

c.419delT

3 papers

NM_001277269.2

p.V141M

c.421G>A

1 paper

NM_001292063.2

p.N131K

c.393T>A