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.V206L

c.616G>C

Surrounding Variants

1 paper

NM_181798.2

p.V79_A81delFs

c.235_242del8

1 paper

NM_000218.3

p.V206V

c.618C>A

1 paper

NM_000218.3

p.V206V

c.618C>T

2 papers

NM_000218.3

p.V205A

c.614T>C

36 papers

NM_000218.3

p.V205M

c.613G>A

20 papers

NM_000218.3

p.V207M

c.619G>A

3 papers

NM_000218.3

p.V207L

c.619G>C

1 paper

NM_000218.3

p.V205L

c.613G>C

3 papers

NM_000218.3

p.V207L

c.619G>T

1 paper

NM_000218.3

p.V205L

c.613G>T

12 papers

NM_000218.3

p.I204M

c.612C>G

1 paper

NM_000218.3

p.I204I

c.612C>T