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.T1480I

c.4439C>T

Surrounding Variants

1 paper

NM_001292063.2

p.W1458_V1459del2

c.4372_4376del6

1 paper

NM_001292063.2

p.P1490R

c.4469C>G

1 paper

NM_001292063.2

p.E1518K

c.4552G>A

3 papers

NM_001277269.2

p.L1548F

c.4642C>T

1 paper

NM_001292063.2

p.G1553*

c.4657G>T

1 paper

NM_001292063.2

p.E1587_T1588insFs

c.4761_4762ins8

1 paper

NM_001292063.2

p.T1588A

c.4762A>G

1 paper

NM_001292063.2

p.A1619V

c.4856C>T

1 paper

NM_001292063.2

p.T1621delFs

c.4862delC

1 paper

NM_001292063.2

p.T1621_V1622delins

c.4863_4864delinsAA

3 papers

NM_001292063.2

p.P1635L

c.4904C>T

1 paper

NM_001277269.2

p.Q1456*

c.4366C>T