Varaico: Literature-Extracted Genetic Variants

KCNH2

2,373 papers

RefSeq Summary

This gene encodes a component of a voltage-activated potassium channel found in cardiac muscle, nerve cells, and microglia. Four copies of this protein interact with one copy of the KCNE2 protein to f...

Pfam Domains

PAS_9aa 29–130UCSCPAS domain

Ion_transaa 407–671UCSCIon transport protein

cNMP_bindingaa 760–845UCSCCyclic nucleotide-binding domain

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily H member 2

HGNC Previous Symbol

LQT2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000238.4

p.T556A

c.1666A>G

Surrounding Variants

1 paper

NM_000238.4

p.T556I

c.1667C>T

5 papers

NM_000238.4

p.C555Y

c.1664G>A

1 paper

NM_000238.4

p.T556fs

c.1666_1667fs

1 paper

NM_000238.4

p.T556T

c.1668C>A

17 papers

NM_000238.4

p.F557L

c.1669T>C

3 papers

NM_000238.4

p.C555R

c.1663T>C

2 papers

NM_000238.4

p.F557fs

c.1669_1670fs

1 paper

NM_000238.4

p.M554fs

c.1660_1661fs

17 papers

NM_000238.4

p.F557L

c.1671T>G

1 paper

NM_000238.4

p.M554R

c.1661T>G

4 papers

NM_000238.4

p.M554T

c.1661T>C

17 papers

NM_000238.4

p.F557L

c.1671T>A