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.I647F

c.1939A>T

Surrounding Variants

1 paper

NM_000238.4

p.L646delFs

c.1936delG

6 papers

NM_000238.4

p.G648S

c.1942G>A

1 paper

NM_000238.4

p.L646F

c.1936C>T

2 papers

NM_000238.4

p.L646V

c.1936C>G

7 papers

NM_000238.4

p.M645I

c.1935G>T

28 papers

NM_000238.4

p.G648A

c.1943G>C

6 papers

NM_000238.4

p.M645I

c.1935G>C

6 papers

NM_000238.4

p.M645I

c.1935G>A

1 paper

NM_000238.4

p.I642_M645del0

c.1926_1934del9

3 papers

NM_000238.4

p.M645R

c.1934T>G

1 paper

NM_001204798.2

p.I307_G308del1

c.921_923delCCA

3 papers

NM_000238.4

p.S649P

c.1945T>C