Varaico: Literature-Extracted Genetic Variants

KCNQ4

417 papers

RefSeq Summary

The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current...

Pfam Domains

Ion_transaa 98–330UCSCIon transport protein

KCNQ_channelaa 464–647UCSCKCNQ voltage-gated potassium channel

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily Q member 4

HGNC Previous Symbol

DFNA2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004700.4

p.H77insFs

c.230_231insGC

Surrounding Variants

1 paper

NM_004700.4

p.H77_K78insFs

c.231_232insGC

1 paper

NM_004700.4

p.H77P

c.230A>C

1 paper

NM_004700.4

p.H77R

c.230A>G

1 paper

NM_004700.4

p.H77L

c.230A>T

1 paper

NM_004700.4

p.H77N

c.229C>A

1 paper

NM_004700.4

p.H77Q

c.231C>A

7 papers

NM_004700.4

p.H77fs

c.229_230fs

1 paper

NM_004700.4

p.H77insFs

c.229_230insT

1 paper

NM_004700.4

p.H77D

c.229C>G

1 paper

NM_004700.4

p.H77Q

c.231C>G

1 paper

NM_004700.4

p.H77Y

c.229C>T

5 papers

NM_004700.4

p.H77fs

c.229_230fs