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

7 papers

NM_001292063.2

p.P2187S

c.6559C>T

Surrounding Variants

1 paper

NM_001292063.2

p.G2238S

c.6712G>A

1 paper

NM_001292063.2

p.G2238D

c.6713G>A

3 papers

NM_001292063.2

p.N2246S

c.6737A>G

1 paper

NM_001277269.2

p.R2310insFs

c.6930dupC

1 paper

NM_001277269.2

p.M2311fs

c.6931_6932fs

1 paper

NM_001292063.2

p.C2308R

c.6922T>C

2 papers

NM_001292063.2

p.R2310H

c.6929G>A

1 paper

NM_001292063.2

p.R2310insFs

c.6930dupC

1 paper

NM_001292063.2

p.C2318W

c.6954T>G

1 paper

NM_001277269.2

p.Q2341*

c.7021C>T

1 paper

NM_001292063.2

p.V2333M

c.6997G>A

1 paper

NM_001277269.2

p.E2362*

c.7084G>T