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.K101K

c.303A>G

Surrounding Variants

3 papers

NM_000238.4

p.K101N

c.303A>T

3 papers

NM_000238.4

p.K101N

c.303A>C

3 papers

NM_000238.4

p.D102H

c.304G>C

4 papers

NM_000238.4

p.K101I

c.302A>T

2 papers

NM_000238.4

p.K101R

c.302A>G

1 paper

NM_000238.4

p.K101T

c.302A>C

7 papers

NM_000238.4

p.D102V

c.305A>T

19 papers

NM_000238.4

p.K101E

c.301A>G

7 papers

NM_000238.4

p.D102A

c.305A>C

5 papers

NM_000238.4

p.K101Q

c.301A>C

1 paper

NM_000238.4

p.D102delFs

c.304delC

1 paper

NM_000238.4

p.D102fs

c.304_305fs