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.A1145fs

c.3433_3434fs

Surrounding Variants

1 paper

NM_001292063.2

p.A1133T

c.3397G>A

1 paper

NM_001277269.2

p.W1144delFs

c.3431delG

1 paper

NM_001277269.2

p.F1140insFs

c.3419dupT

1 paper

NM_001292063.2

p.L1122delFs

c.3364delC

1 paper

NM_001292063.2

p.L1120delFs

c.3360delA

1 paper

NM_001292063.2

p.L1120fs

c.3358_3359fs

1 paper

NM_001292063.2

p.P1117T

c.3349C>A

1 paper

NM_001292063.2

p.R1115M

c.3344G>T

1 paper

NM_001292063.2

p.I1111T

c.3332T>C

1 paper

NM_001292063.2

p.L1108delFs

c.3324delA

1 paper

NM_001292063.2

p.L1108fs

c.3322_3323fs

1 paper

NM_001292063.2

p.Q1096_G1097Splc

c.3289-8C>G