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

4 papers

NM_001277269.2

p.P1836delFs

c.5508delC

Surrounding Variants

1 paper

NM_001292063.2

p.P1822P

c.5466C>T

3 papers

NM_001277269.2

p.A1838fs

c.5512_5513fs

3 papers

NM_001292063.2

p.A1820V

c.5459C>T

1 paper

NM_001292063.2

p.P1832R

c.5495C>G

4 papers

NM_001292063.2

p.P1832L

c.5495C>T

1 paper

NM_001292063.2

p.V1813G

c.5438T>G

1 paper

NM_001277269.2

p.A1823V

c.5468C>T

1 paper

NM_001292063.2

p.L1845P

c.5534T>C

1 paper

NM_001277269.2

p.Q1809*

c.5425C>T

2 papers

NM_001292063.2

p.P1862R

c.5585C>G

1 paper

NM_001292063.2

p.L1782P

c.5345T>C

1 paper

NM_001277269.2

p.G1883D

c.5648G>A