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.E857K

c.2569G>A

Surrounding Variants

1 paper

NM_000238.4

p.E857del1

c.2569_2570delCTC

1 paper

NM_000238.4

p.Y845_E857del13

c.2533_2570del39

5 papers

NM_000238.4

p.I858T

c.2573T>C

4 papers

NM_000238.4

p.S855R

c.2565C>G

4 papers

NM_000238.4

p.S855R

c.2565C>A

1 paper

NM_000238.4

p.S855insFs

c.2563dupA

1 paper

NM_000238.4

p.S855N

c.2564G>A

1 paper

NM_000238.4

p.S855fs

c.2563_2564fs

4 papers

NM_000238.4

p.S855R

c.2563A>C

1 paper

NM_000238.4

p.T859_F860ins7

c.2575_2579ins21

1 paper

NM_000238.4

p.T859I

c.2576C>T

1 paper

NM_000238.4

p.S854F

c.2561C>T