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

5 papers

NM_000218.3

p.T104S

c.311C>G

Surrounding Variants

8 papers

NM_000218.3

p.T104I

c.311C>T

1 paper

NM_000218.3

p.T104ins1

c.310_311insATG

1 paper

NM_000218.3

p.T104P

c.310A>C

2 papers

NM_000218.3

p.T104A

c.310A>G

6 papers

NM_000218.3

p.T104S

c.310A>T

1 paper

NM_000218.3

p.H105delFs

c.314_315delAC

5 papers

NM_000218.3

p.H105N

c.313C>A

1 paper

NM_000218.3

p.R103R

c.309C>A

5 papers

NM_000218.3

p.H105Y

c.313C>T

1 paper

NM_000218.3

p.H105_V106insFs

c.315_316insC

12 papers

NM_000218.3

p.H105L

c.314A>T

2 papers

NM_000218.3

p.R103C

c.307C>T