Varaico: Literature-Extracted Genetic Variants

OTOF

634 papers

RefSeq Summary

Mutations in this gene are a cause of neurosensory nonsyndromic recessive deafness, DFNB9. The short form of the encoded protein has 3 C2 domains, a single carboxy-terminal transmembrane domain found ...

Pfam Domains

C2aa 5–100UCSCC2 domain

C2aa 254–359UCSCC2 domain

FerIaa 360–410UCSCFerI (NUC094) domain

C2aa 417–530UCSCC2 domain

FerBaa 842–917UCSCFerB (NUC096) domain

C2aa 960–1059UCSCC2 domain

Gene Aliases

HGNC Name

otoferlin

HGNC Previous Symbol

DFNB9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_194248.3

p.M432V

c.1294A>G

Surrounding Variants

1 paper

NM_194248.3

p.M432T

c.1295T>C

2 papers

NM_194248.3

p.R431L

c.1292G>T

1 paper

NM_194248.3

p.R431C

c.1291C>T

1 paper

NM_194248.3

p.S435N

c.1304G>A

1 paper

NM_194248.3

p.M437K

c.1310T>A

1 paper

NM_194248.3

p.A426T

c.1276G>A

3 papers

NM_194248.3

p.R425P

c.1274G>C

19 papers

NM_194248.3

p.R425*

c.1273C>T

1 paper

NM_194248.3

p.Y424*

c.1272C>G

1 paper

NM_194248.3

p.Y424*

c.1272C>A

1 paper

NM_194248.3

p.M437_A443delFs

c.1310_1328del19

2 papers

NM_194248.3

p.A417A

c.1251C>G