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_001292063.2

p.R1084*

c.3250A>T

Surrounding Variants

1 paper

NM_001292063.2

p.Q1083R

c.3248A>G

1 paper

NM_001277269.2

p.I1089V

c.3265A>G

1 paper

NM_001292063.2

p.P1093S

c.3277C>T

1 paper

NM_001277269.2

p.W1107*

c.3320G>A

1 paper

NM_001277269.2

p.W1107*

c.3321G>A

1 paper

NM_001292063.2

p.W1062*

c.3186G>A

1 paper

NM_001292063.2

p.W1062*

c.3185G>A

4 papers

NM_001292063.2

p.D1054Y

c.3160G>T

1 paper

NM_001292063.2

p.Q1096_G1097Splc

c.3289-8C>G

1 paper

NM_001292063.2

p.L1108fs

c.3322_3323fs

1 paper

NM_001292063.2

p.L1108delFs

c.3324delA

1 paper

NM_001292063.2

p.I1111T

c.3332T>C