Varaico: Literature-Extracted Genetic Variants

Gene:CLCC1
Variant:p.Q239*

CLCC1

56 papers

Pfam Domains

MCLCaa 3–44UCSCMid-1-related chloride channel (MCLC)
MCLCaa 3–551UCSCMid-1-related chloride channel (MCLC)

Gene Aliases

HGNC Name

chloride channel CLIC like 1

HGNC Alias Symbol

MCLC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001377458.1
p.Q239*
c.715C>T
Surrounding Variants
1 paper
NM_001377458.1
p.A245T
c.733G>A
1 paper
NM_001377458.1
p.M247T
c.740T>C
1 paper
NM_001377458.1
p.A255V
c.764C>T
1 paper
NM_001377458.1
p.K257fs
c.769_770fs
1 paper
NM_001377458.1
p.K257fs
c.769_770fs
1 paper
NM_001377458.1
p.T261S
c.781A>T
1 paper
NM_001377458.1
p.T261S
c.782C>G
3 papers
NM_001377458.1
p.S263R
c.787A>C
3 papers
NM_001377458.1
p.S263R
c.789T>G
3 papers
NM_001377458.1
p.S263R
c.789T>A
1 paper
NM_001377458.1
p.E266Splc
c.797-5A>G
3 papers
NM_001377458.1
p.W267R
c.799T>C
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