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_001277269.2

p.C2108fs

c.6322_6323fs

Surrounding Variants

1 paper

NM_001292063.2

p.C2096Y

c.6287G>A

1 paper

NM_001277269.2

p.C2108insFs

c.6323_6324ins4

1 paper

NM_001292063.2

p.R2089C

c.6265C>T

1 paper

NM_001277269.2

p.V2095fs

c.6283_6284fs

1 paper

NM_001277269.2

p.A2094delFs

c.6281delC

2 papers

NM_001277269.2

p.R2072H

c.6215G>A

NM_001292063.2

p.R2060H

c.6179G>A

4 papers

NM_001277269.2

p.P2116L

c.6347C>T

1 paper

NM_001292063.2

p.F2111L

c.6331T>C

1 paper

NM_001277269.2

p.H2127H

c.6381C>T

1 paper

NM_001292063.2

p.F2119L

c.6357C>G

1 paper

NM_001292063.2

p.S2127S

c.6381C>T

1 paper

NM_001292063.2

p.S2037F

c.6110C>T