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

5 papers

NM_000238.4

p.T65S

c.194C>G

Surrounding Variants

1 paper

NM_000238.4

p.T65I

c.194C>T

1 paper

NM_000238.4

p.T65T

c.195C>T

5 papers

NM_000238.4

p.T65S

c.193A>T

1 paper

NM_000238.4

p.T65A

c.193A>G

51 papers

NM_000238.4

p.T65P

c.193A>C

19 papers

NM_000238.4

p.C66G

c.196T>G

6 papers

NM_000238.4

p.C66R

c.196T>C

4 papers

NM_000238.4

p.C66S

c.196T>A

6 papers

NM_000238.4

p.C64W

c.192C>G

2 papers

NM_000238.4

p.C64F

c.191G>T

4 papers

NM_000238.4

p.C66S

c.197G>C

21 papers

NM_000238.4

p.C64Y

c.191G>A