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

7 papers

NM_000238.4

p.R356H

c.1067G>A

Surrounding Variants

4 papers

NM_000238.4

p.R356C

c.1066C>T

1 paper

NM_000238.4

p.R356G

c.1066C>G

1 paper

NM_000238.4

p.R356S

c.1066C>A

1 paper

NM_000238.4

p.D355E

c.1065C>G

1 paper

NM_000238.4

p.D355E

c.1065C>A

2 papers

NM_000238.4

p.E357D

c.1071G>T

2 papers

NM_000238.4

p.E357D

c.1071G>C

1 paper

NM_000238.4

p.R356_E357del0

c.1066_1071del6

2 papers

NM_000238.4

p.I358N

c.1073T>A

1 paper

NM_000238.4

p.S354N

c.1061G>A

2 papers

NM_000238.4

p.I359K

c.1076T>A

3 papers

NM_000238.4

p.T353I

c.1058C>T