Varaico: Literature-Extracted Genetic Variants

KCNQ5

167 papers

RefSeq Summary

This gene is a member of the KCNQ potassium channel gene family that is differentially expressed in subregions of the brain and in skeletal muscle. The protein encoded by this gene yields currents tha...

Pfam Domains

Ion_transaa 126–358UCSCIon transport protein

KCNQ_channelaa 447–634UCSCKCNQ voltage-gated potassium channel

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily Q member 5

HGNC Alias Symbol

Kv7.5

Papers

RefSeq ID

Protein change

DNA change

1–12 of 176 variants

10 papers

NM_019842.4

p.P369R

c.1106C>G

8 papers

NM_019842.4

p.V145G

c.434T>G

8 papers

NM_019842.4

p.L341I

c.1021C>A

3 papers

NM_019842.4

p.R244C

c.730C>T

3 papers

NM_019842.4

p.G347S

c.1039G>A

2 papers

NM_019842.4

p.R3S

c.7C>A

2 papers

NM_019842.4

p.S95insFs

c.283_284insGT

2 papers

NM_019842.4

p.V170I

c.508G>A

2 papers

NM_019842.4

p.R187Q

c.560G>A

2 papers

NM_019842.4

p.G273E

c.818G>A

2 papers

NM_019842.4

p.K289N

c.867G>C

2 papers

NM_019842.4

p.K289N

c.867G>T