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

31 papers

NM_004700.4

p.Q71delFs

c.211delC

Surrounding Variants

1 paper

NM_004700.4

p.G70D

c.209G>A

1 paper

NM_004700.4

p.G70A

c.209G>C

1 paper

NM_004700.4

p.G70V

c.209G>T

13 papers

NM_004700.4

p.Q71_A75delFs

c.211_223del13

1 paper

NM_004700.4

p.G70S

c.208G>A

1 paper

NM_004700.4

p.G70R

c.208G>C

1 paper

NM_004700.4

p.G70C

c.208G>T

1 paper

NM_004700.4

p.Q71K

c.211C>A

15 papers

NM_004700.4

p.Q71fs

c.211_212fs

1 paper

NM_004700.4

p.C69W

c.207C>G

1 paper

NM_004700.4

p.Q71E

c.211C>G

1 paper

NM_004700.4

p.Q71*

c.211C>T