Varaico: Literature-Extracted Genetic Variants

CLIC1

39 papers

RefSeq Summary

Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane potential, transepithelial transport, maintenance of intracellul...

Pfam Domains

GST_N_2aa 23–87UCSCGlutathione S-transferase, N-terminal domain

GST_C_2aa 123–212UCSCGlutathione S-transferase, C-terminal domain

Gene Aliases

HGNC Name

chloride intracellular channel 1

HGNC Alias Symbols

NCC27; p64CLCP; G6; CLCNL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_001288.6

p.C24S

c.70T>A

Surrounding Variants

3 papers

NM_001288.6

p.C24S

c.71G>C

1 paper

NM_001288.6

p.N23S

c.68A>G

1 paper

NM_001288.6

p.G22A

c.65G>C

1 paper

NM_001288.6

p.G18A

c.53G>C

2 papers

NM_001288.6

p.K37M

c.110A>T

1 paper

NM_001288.6

p.R50Splc

c.149+33G>A

1 paper

NM_001288.6

p.E72V

c.215A>T

1 paper

NM_001288.6

p.H74H

c.222C>T

1 paper

NM_001288.6

p.D76N

c.226G>A

1 paper

NM_001288.6

p.D153E

c.459T>G

1 paper

NM_001288.6

p.D153E

c.459T>A

1 paper

NM_001288.6

p.L175R

c.524T>G