Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKA
Variant:p.D383Y

CLCNKA

239 papers

RefSeq Summary

This gene is a member of the CLC family of voltage-gated chloride channels. The encoded protein is predicted to have 12 transmembrane domains, and requires a beta subunit called barttin to form a func...

Pfam Domains

Voltage_CLCaa 101–513UCSCVoltage gated chloride channel
CBSaa 547–605UCSCCBS domain

Gene Aliases

HGNC Name

chloride voltage-gated channel Ka

HGNC Alias Symbols

hClC-Ka; ClC-K1; CLCK1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_004070.4
p.D383Y
c.1147G>T
Surrounding Variants
1 paper
NM_004070.4
p.E381K
c.1141G>A
1 paper
NM_004070.4
p.L387F
c.1159C>T
2 papers
NM_004070.4
p.P379delFs
c.1137delC
1 paper
NM_004070.4
p.W391*
c.1172G>A
1 paper
NM_004070.4
p.N373S
c.1118A>G
1 paper
NM_004070.4
p.M370I
c.1110G>A
1 paper
NM_004070.4
p.M370I
c.1110G>C
1 paper
NM_004070.4
p.M370I
c.1110G>T
1 paper
NM_004070.4
p.F396L
c.1186T>C
1 paper
NM_004070.4
p.F396L
c.1188C>A
1 paper
NM_004070.4
p.F396L
c.1188C>G
1 paper
NM_004070.4
p.I398_T401del0
c.1192_1203del12
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."