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

2 papers

NM_000238.4

p.L1012P

c.3035T>C

Surrounding Variants

1 paper

NM_000238.4

p.E1011delFs

c.3032_3033delCT

1 paper

NM_000238.4

p.E1011V

c.3032A>T

1 paper

NM_000238.4

p.E1011fs

c.3031_3032fs

1 paper

NM_000238.4

p.Q1010fs

c.3028_3029fs

49 papers

NM_000238.4

p.R1014*

c.3040C>T

1 paper

NM_000238.4

p.P1013delFs

c.3039delA

2 papers

NM_000238.4

p.R1014fs

c.3040_3041fs

2 papers

NM_000238.4

p.Y1009*

c.3027C>G

2 papers

NM_000238.4

p.Y1009*

c.3027C>A

1 paper

NM_000238.4

p.C1015Y

c.3044G>A

1 paper

NM_000238.4

p.C1015*

c.3045C>A

1 paper

NM_000238.4

p.L1012_C1015delFs

c.3035_3045del11