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.E39V

c.116A>T

Surrounding Variants

1 paper

NM_000218.3

p.E39A

c.116A>C

1 paper

NM_000218.3

p.E39G

c.116A>G

1 paper

NM_000218.3

p.E39K

c.115G>A

1 paper

NM_000218.3

p.E39Q

c.115G>C

10 papers

NM_000218.3

p.E39*

c.115G>T

1 paper

NM_000218.3

p.L38P

c.113T>C

1 paper

NM_000218.3

p.L40P

c.119T>C

3 papers

NM_000218.3

p.A41T

c.121G>A

1 paper

NM_000218.3

p.S37S

c.111G>A

1 paper

NM_000218.3

p.A41P

c.121G>C

1 paper

NM_000218.3

p.S37_L38insFs

c.111_112insA

1 paper

NM_000218.3

p.A41S

c.121G>T