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

3 papers

NM_000238.4

p.D383N

c.1147G>A

Surrounding Variants

2 papers

NM_000238.4

p.D383E

c.1149C>G

2 papers

NM_000238.4

p.D383E

c.1149C>A

1 paper

NM_000238.4

p.A382D

c.1145C>A

1 paper

NM_000238.4

p.V384L

c.1150G>C

2 papers

NM_000238.4

p.A382T

c.1144G>A

1 paper

NM_000238.4

p.V384M

c.1150G>A

1 paper

NM_000238.4

p.G381D

c.1142G>A

1 paper

NM_000238.4

p.V384delFs

c.1152delC

1 paper

NM_000238.4

p.L380fs

c.1138_1139fs

1 paper

NM_000238.4

p.L380P

c.1139T>C

1 paper

NM_000238.4

p.S379F

c.1136C>T

1 paper

NM_000238.4

p.E387G

c.1160A>G