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.L1042del1

c.3124_3125delCAG

Surrounding Variants

1 paper

NM_000238.4

p.D1043V

c.3128A>T

1 paper

NM_000238.4

p.D1043G

c.3128A>G

1 paper

NM_000238.4

p.L1042V

c.3124C>G

1 paper

NM_000238.4

p.A1044V

c.3131C>T

7 papers

NM_000238.4

p.L1045F

c.3133C>T

1 paper

NM_000238.4

p.L1045I

c.3133C>A

1 paper

NM_000238.4

p.Q1046fs

c.3136_3137fs

3 papers

NM_000238.4

p.Q1046*

c.3136C>T

1 paper

NM_000238.4

p.L1042_L1045insFs

c.3125_3135dup11

5 papers

NM_000238.4

p.S1040G

c.3118A>G

1 paper

NM_000238.4

p.Q1046fs

c.3136_3137fs

4 papers

NM_000238.4

p.E1039*

c.3115G>T