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

3 papers

NM_001039574.3

p.C520Y

c.1559G>A

Surrounding Variants

1 paper

NM_001039574.3

p.T523S

c.1567A>T

1 paper

NM_001039574.3

p.T523S

c.1568C>G

1 paper

NM_001039574.3

p.D539N

c.1615G>A

1 paper

NM_001039574.3

p.A500V

c.1499C>T

1 paper

NM_001039574.3

p.R498Q

c.1493G>A

1 paper

NM_001039574.3

p.K493E

c.1477A>G

2 papers

NM_001039574.3

p.P469A

c.1405C>G

1 paper

NM_001039574.3

p.P467P

c.1401G>T

1 paper

NM_001039574.3

p.A454T

c.1360G>A

1 paper

NM_001039574.3

p.I405N

c.1214T>A

1 paper

NM_001039574.3

p.R404H

c.1211G>A

1 paper

NM_001039574.3

p.L393L

c.1179C>T