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.V36G

c.107T>G

Surrounding Variants

2 papers

NM_000238.4

p.V36A

c.107T>C

2 papers

NM_000238.4

p.V36E

c.107T>A

1 paper

NM_000238.4

p.V36delFs

c.106delC

2 papers

NM_000238.4

p.V36L

c.106G>T

2 papers

NM_000238.4

p.V36L

c.106G>C

3 papers

NM_000238.4

p.V36M

c.106G>A

1 paper

NM_000238.4

p.A32_R35delFs

c.94_104del11

1 paper

NM_000238.4

p.E37*

c.109G>T

2 papers

NM_000238.4

p.E37Q

c.109G>C

2 papers

NM_000238.4

p.E37K

c.109G>A

3 papers

NM_000238.4

p.R35L

c.104G>T

2 papers

NM_000238.4

p.R35P

c.104G>C