Varaico: Literature-Extracted Genetic Variants

KCNQ1

2,217 papers

RefSeq Summary

This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, ...

Pfam Domains

Ion_transaa 122–359UCSCIon transport protein

KCNQ_channelaa 483–620UCSCKCNQ voltage-gated potassium channel

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily Q member 1

HGNC Previous Symbols

LQT; KCNA9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000218.3

p.G44C

c.130G>T

Surrounding Variants

2 papers

NM_000218.3

p.G44S

c.130G>A

2 papers

NM_000218.3

p.G44R

c.130G>C

1 paper

NM_000218.3

p.G44delFs

c.131delG

1 paper

NM_000218.3

p.G44G

c.132C>A

1 paper

NM_000218.3

p.G44G

c.132C>T

1 paper

NM_000218.3

p.G43D

c.128G>A

1 paper

NM_000218.3

p.P45T

c.133C>A

1 paper

NM_000218.3

p.P45A

c.133C>G

2 papers

NM_000218.3

p.P45S

c.133C>T

1 paper

NM_000218.3

p.G43S

c.127G>A

1 paper

NM_000218.3

p.G43R

c.127G>C

1 paper

NM_000218.3

p.P45R

c.134C>G