Varaico: Literature-Extracted Genetic Variants

GIPC3

103 papers

RefSeq Summary

The protein encoded by this gene belongs to the GIPC family. Studies in mice suggest that this gene is required for postnatal maturation of the hair bundle and long-term survival of hair cells and spi...

Pfam Domains

GIPC1_GH1aa 38–104UCSCGIPC1-3 GH1 domain

PDZaa 112–191UCSCPDZ domain

GIPC1_GH2aa 218–307UCSCGIPC1-3 GH2 domain

Gene Aliases

HGNC Name

GIPC PDZ domain containing family member 3

HGNC Previous Symbols

C19orf64; DFNB72; DFNB15

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_133261.3

p.L81F

c.241C>T

Surrounding Variants

6 papers

NM_133261.3

p.N82S

c.245A>G

1 paper

NM_133261.3

p.H84L

c.251A>T

1 paper

NM_133261.3

p.I76_L77insFs

c.228_229insT

4 papers

NM_133261.3

p.E75_I76Splc

c.226-1G>T

4 papers

NM_133261.3

p.M88I

c.264G>A

4 papers

NM_133261.3

p.M88I

c.264G>C

4 papers

NM_133261.3

p.M88I

c.264G>T

2 papers

NM_133261.3

p.L92L

c.276G>A

5 papers

NM_133261.3

p.G94D

c.281G>A

1 paper

NM_133261.3

p.R107G

c.319C>G

1 paper

NM_133261.3

p.E112D

c.336G>C

1 paper

NM_133261.3

p.E112D

c.336G>T