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.P1030_P1034delFs

c.3090_3102del13

Surrounding Variants

1 paper

NM_000238.4

p.R1035fs

c.3103_3104fs

3 papers

NM_000238.4

p.R1035W

c.3103C>T

1 paper

NM_000238.4

p.R1035G

c.3103C>G

1 paper

NM_000238.4

p.R1033_P1034delFs

c.3098_3102del5

1 paper

NM_000238.4

p.R1035insFs

c.3103dupC

6 papers

NM_000238.4

p.R1035delFs

c.3103delG

1 paper

NM_000238.4

p.P1034_R1035delFs

c.3102_3103delGG

6 papers

NM_000238.4

p.P1034fs

c.3100_3101fs

1 paper

NM_000238.4

p.R1035_G1036insFs

c.3105_3106insCC

1 paper

NM_000238.4

p.R1035fs

c.3103_3104fs

1 paper

NM_000238.4

p.R1033_P1034ins0

c.3098_3100dupGGC

1 paper

NM_000238.4

p.R1032_R1033insFs

c.3096_3097ins5