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.R539P

c.1616G>C

Surrounding Variants

4 papers

NM_000218.3

p.R539Q

c.1616G>A

3 papers

NM_000218.3

p.R539L

c.1616G>T

55 papers

NM_000218.3

p.R539W

c.1615C>T

1 paper

NM_000218.3

p.R539fs

c.1615_1616fs

1 paper

NM_000218.3

p.D540A

c.1619A>C

1 paper

NM_181798.2

p.V411M

c.1231G>A

5 papers

NM_000218.3

p.V541I

c.1621G>A

NM_181798.2

p.V414I

c.1240G>A

1 paper

NM_000218.3

p.D537N

c.1609G>A

8 papers

NM_000218.3

p.Y536*

c.1608C>A

1 paper

NM_000218.3

p.D537_V538insFs

c.1610_1614dup5

8 papers

NM_000218.3

p.Y536*

c.1608C>G

1 paper

NM_000218.3

p.Y536delFs

c.1607_1608delAC