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.A344_G345Splc

c.1033-1G>C

Surrounding Variants

2 papers

NM_000218.3

p.A344_G345Splc

c.1033-2A>C

18 papers

NM_000218.3

p.A344_G345Splc

c.1033-2A>G

15 papers

NM_000218.3

p.G345R

c.1033G>A

14 papers

NM_000218.3

p.G345R

c.1033G>C

3 papers

NM_000218.3

p.G345W

c.1033G>T

1 paper

NM_000218.3

p.A344_G345Splc

c.1033-3C>T

25 papers

NM_000218.3

p.G345E

c.1034G>A

8 papers

NM_000218.3

p.G345A

c.1034G>C

5 papers

NM_000218.3

p.G345V

c.1034G>T

1 paper

NM_000218.3

p.A344_G345Splc

c.1033-4C>T

1 paper

NM_181798.2

p.L220I

c.658C>A

2 papers

NM_000218.3

p.L347F

c.1039C>T