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.S999insFs

c.2995dupA

Surrounding Variants

1 paper

NM_000238.4

p.S999fs

c.2995_2996fs

2 papers

NM_000238.4

p.F998delFs

c.2993delA

1 paper

NM_000238.4

p.F998fs

c.2992_2993fs

22 papers

NM_000238.4

p.W1001*

c.3002G>A

22 papers

NM_000238.4

p.W1001*

c.3003G>A

1 paper

NM_000238.4

p.N996fs

c.2986_2987fs

26 papers

NM_000238.4

p.N996I

c.2987A>T

1 paper

NM_000238.4

p.N996S

c.2987A>G

1 paper

NM_000238.4

p.S995delFs

c.2985delG

1 paper

NM_000238.4

p.D1003Y

c.3007G>T

1 paper

NM_000238.4

p.D1003fs

c.3007_3008fs

2 papers

NM_000238.4

p.D1003insFs

c.3007dupG