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

9 papers

NM_000218.3

p.W176R

c.526T>C

Surrounding Variants

9 papers

NM_000218.3

p.W176R

c.526T>A

1 paper

NM_000218.3

p.W176fs

c.526_527fs

1 paper

NM_000218.3

p.W176_L191del16

c.526_572del48

4 papers

NM_000218.3

p.W176*

c.527G>A

2 papers

NM_000218.3

p.W176S

c.527G>C

1 paper

NM_000218.3

p.W176insFs

c.527_528insC

4 papers

NM_000218.3

p.W176*

c.528G>A

2 papers

NM_000218.3

p.L175P

c.524T>C

1 paper

NM_000218.3

p.L175fs

c.523_524fs

1 paper

NM_000218.3

p.L175F

c.523C>T

2 papers

NM_000218.3

p.S177T

c.529T>A

1 paper

NM_000218.3

p.S177Y

c.530C>A