Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKA
Variant:p.P280fs

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
1 paper
NM_004070.4
p.P280fs
c.838_839fs
Surrounding Variants
1 paper
NM_004070.4
p.P280delFs
c.839delC
1 paper
NM_004070.4
p.E281insFs
c.842_843dupAG
1 paper
NM_004070.4
p.E281Q
c.841G>C
1 paper
NM_004070.4
p.D278G
c.833A>G
1 paper
NM_004070.4
p.E281D
c.843G>C
1 paper
NM_004070.4
p.E281D
c.843G>T
1 paper
NM_004070.4
p.F283_F284del1
c.849_851delCTT
2 papers
NM_004070.4
p.D278N
c.832G>A
1 paper
NM_004070.4
p.F284del1
c.850_851delTTT
2 papers
NM_004070.4
p.D274N
c.820G>A
1 paper
NM_004070.4
p.A287S
c.859G>T
12 papers
NM_004070.4
p.A287V
c.860C>T
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