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.A169delFs

c.506delG

Surrounding Variants

1 paper

NM_000238.4

p.L170V

c.508C>G

1 paper

NM_000238.4

p.L170L

c.510G>T

2 papers

NM_000238.4

p.P168L

c.503C>T

2 papers

NM_000238.4

p.L167P

c.500T>C

2 papers

NM_000238.4

p.A172S

c.514G>T

4 papers

NM_000238.4

p.A172P

c.514G>C

3 papers

NM_000238.4

p.A172T

c.514G>A

1 paper

NM_000238.4

p.A172fs

c.514_515fs

6 papers

NM_000238.4

p.A172V

c.515C>T

3 papers

NM_000238.4

p.L167V

c.499C>G

2 papers

NM_000238.4

p.K166N

c.498G>T

1 paper

NM_000238.4

p.A172A

c.516G>T