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.P1013_A1017delFs

c.3039_3049del11

Surrounding Variants

2 papers

NM_000238.4

p.A1017S

c.3049G>T

1 paper

NM_000238.4

p.A1017P

c.3049G>C

1 paper

NM_000238.4

p.P1016delFs

c.3048delG

1 paper

NM_000238.4

p.L1012_P1016delFs

c.3036_3048del13

1 paper

NM_000238.4

p.A1017fs

c.3049_3050fs

2 papers

NM_000238.4

p.P1018A

c.3052C>G

1 paper

NM_000238.4

p.P1016L

c.3047C>T

1 paper

NM_000238.4

p.L1012_C1015delFs

c.3035_3045del11

1 paper

NM_000238.4

p.C1015*

c.3045C>A

2 papers

NM_000238.4

p.T1019fs

c.3055_3056fs

3 papers

NM_000238.4

p.P1018delFs

c.3054delG

1 paper

NM_000238.4

p.C1015Y

c.3044G>A