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

3 papers

NM_001292063.2

p.A2006V

c.6017C>T

Surrounding Variants

1 paper

NM_001292063.2

p.E2001K

c.6001G>A

1 paper

NM_001292063.2

p.S2019delFs

c.6057delC

1 paper

NM_001292063.2

p.E2022Q

c.6064G>C

1 paper

NM_001292063.2

p.L2024delFs

c.6072delG

3 papers

NM_001277269.2

p.A2037V

c.6110C>T

1 paper

NM_001292063.2

p.A2034P

c.6100G>C

1 paper

NM_001292063.2

p.S2037F

c.6110C>T

1 paper

NM_001277269.2

p.A1966G

c.5897C>G

3 papers

NM_001292063.2

p.A1947V

c.5840C>T

1 paper

NM_001277269.2

p.H1952Y

c.5854C>T

3 papers

NM_001292063.2

p.T1935M

c.5804C>T

1 paper

NM_001277269.2

p.R1915*

c.5743C>T