Varaico: Literature-Extracted Genetic Variants

KCNC4

83 papers

RefSeq Summary

The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to the Shaw subfami...

Pfam Domains

Shal-typeaa 5–27UCSCShal-type voltage-gated potassium channels, N-terminal

BTB_2aa 38–143UCSCBTB/POZ domain

Ion_transaa 225–483UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily C member 4

HGNC Previous Symbol

C1orf30

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001039574.3

p.T258P

c.772A>C

Surrounding Variants

1 paper

NM_001039574.3

p.A250V

c.749C>T

1 paper

NM_001039574.3

p.T267N

c.800C>A

1 paper

NM_001039574.3

p.F243S

c.728T>C

1 paper

NM_001039574.3

p.V238F

c.712G>T

2 papers

NM_001039574.3

p.S232C

c.695C>G

2 papers

NM_001039574.3

p.V287I

c.859G>A

1 paper

NM_001039574.3

p.T306T

c.918G>A

2 papers

NM_001039574.3

p.V310I

c.928G>A

1 paper

NM_001039574.3

p.G330G

c.990G>T

1 paper

NM_001039574.3

p.G333S

c.997G>A

1 paper

NM_001039574.3

p.A339fs

c.1015_1016fs

1 paper

NM_001039574.3

p.A339D

c.1016C>A