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

2 papers

NM_000218.3

p.A208T

c.622G>A

Surrounding Variants

1 paper

NM_000218.3

p.A208P

c.622G>C

1 paper

NM_000218.3

p.A208fs

c.622_623fs

1 paper

NM_000218.3

p.A208S

c.622G>T

1 paper

NM_000218.3

p.A208D

c.623C>A

1 paper

NM_000218.3

p.A208G

c.623C>G

2 papers

NM_000218.3

p.A208V

c.623C>T

1 paper

NM_000218.3

p.A208_M210delFs

c.624_630del7

1 paper

NM_181798.2

p.S82_V84ins1

c.244_252dup9

1 paper

NM_000218.3

p.A208A

c.624C>T

20 papers

NM_000218.3

p.V207M

c.619G>A

3 papers

NM_000218.3

p.V207L

c.619G>C

3 papers

NM_000218.3

p.V207L

c.619G>T