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.G57D

c.170G>A

Surrounding Variants

4 papers

NM_000218.3

p.G57V

c.170G>T

1 paper

NM_000218.3

p.G57G

c.171C>A

1 paper

NM_000218.3

p.G57G

c.171C>G

2 papers

NM_000218.3

p.G57G

c.171C>T

3 papers

NM_000218.3

p.G57S

c.169G>A

2 papers

NM_000218.3

p.G57R

c.169G>C

3 papers

NM_000218.3

p.G57fs

c.169_170fs

1 paper

NM_000218.3

p.P56P

c.168C>A

1 paper

NM_000218.3

p.P56P

c.168C>G

1 paper

NM_000218.3

p.P56P

c.168C>T

3 papers

NM_000218.3

p.A58T

c.172G>A

3 papers

NM_000218.3

p.A58P

c.172G>C