Varaico: Literature-Extracted Genetic Variants

OTOGL

129 papers

RefSeq Summary

The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of vertebrates with the highest level of expression seen at the embryonic stage and lowest in a...

Pfam Domains

OTOGL_Naa 85–114UCSCOtogelin-like N-terminal

VWDaa 123–273UCSCvon Willebrand factor type D domain

C8aa 320–387UCSCC8 domain

VWDaa 483–635UCSCvon Willebrand factor type D domain

C8aa 677–742UCSCC8 domain

TILaa 745–800UCSCTrypsin Inhibitor like cysteine rich domain

Gene Aliases

HGNC Name

otogelin like

HGNC Previous Symbol

C12orf64

Papers

RefSeq ID

Protein change

DNA change

1–12 of 168 variants

7 papers

NM_001378609.3

p.P945S

c.2833C>T

6 papers

NM_001378609.3

p.R954*

c.2860C>T

6 papers

NM_001378609.3

p.T2156N

c.6467C>A

3 papers

NM_001378609.3

p.Q529*

c.1585C>T

3 papers

NM_001378609.3

p.M1234I

c.3702G>A

3 papers

NM_001378609.3

p.D2137Y

c.6409G>T

2 papers

NM_001378609.3

p.R159W

c.475C>T

2 papers

NM_001378609.3

p.A316delFs

c.948delA

2 papers

NM_001378609.3

p.L325fs

c.973_974fs

2 papers

NM_001378609.3

p.L325delFs

c.975delG

2 papers

NM_001378609.3

p.V486delFs

c.1457delT

2 papers

NM_001378609.3

p.T519A

c.1555A>G