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.A350V

c.1049C>T

Surrounding Variants

2 papers

NM_000238.4

p.A350S

c.1048G>T

1 paper

NM_000238.4

p.A350P

c.1048G>C

1 paper

NM_000238.4

p.A350T

c.1048G>A

1 paper

NM_000238.4

p.S351P

c.1051T>C

1 paper

NM_000238.4

p.S351T

c.1051T>A

5 papers

NM_000238.4

p.S351L

c.1052C>T

1 paper

NM_000238.4

p.L349_A350ins15

c.1045_1049ins45

1 paper

NM_000238.4

p.L349L

c.1045T>C

1 paper

NM_000238.4

p.S351S

c.1053G>A

2 papers

NM_000238.4

p.P352S

c.1054C>T

1 paper

NM_000238.4

p.P352A

c.1054C>G

1 paper

NM_000238.4

p.F348L

c.1044C>G