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

2 papers

NM_001277269.2

p.V1358delFs

c.4073delT

NM_001292063.2

p.V1346delFs

c.4037delT

Surrounding Variants

2 papers

NM_001277269.2

p.V1358fs

c.4072_4073fs

NM_001292063.2

p.V1346fs

c.4036_4037fs

4 papers

NM_001277269.2

p.R1353Q

c.4058G>A

NM_001292063.2

p.R1341Q

c.4022G>A

1 paper

NM_001277269.2

p.P1366_S1367insC

c.4096_4100ins3

1 paper

NM_001292063.2

p.H1337Y

c.4009C>T

1 paper

NM_001292063.2

p.A1332V

c.3995C>T

2 papers

NM_001292063.2

p.A1363P

c.4087G>C

1 paper

NM_001292063.2

p.A1366_L1367insC

c.4096_4100ins3

1 paper

NM_001277269.2

p.Q1335_G1336del2

c.4003_4007del6

1 paper

NM_001292063.2

p.A1320V

c.3959C>T

7 papers

NM_001292063.2

p.V1375L

c.4123G>C

1 paper

NM_001292063.2

p.A1313G

c.3938C>G

1 paper

NM_001292063.2

p.A1301S

c.3901G>T