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

1 paper

NM_001288.6

p.D153E

c.459T>A

Surrounding Variants

1 paper

NM_001288.6

p.D153E

c.459T>G

1 paper

NM_001288.6

p.L175R

c.524T>G

1 paper

NM_001288.6

p.K183K

c.549G>A

1 paper

NM_001288.6

p.V190G

c.569T>G

1 paper

NM_001288.6

p.T198I

c.593C>T

1 paper

NM_001288.6

p.T198T

c.594C>T

1 paper

NM_001288.6

p.P200S

c.598C>T

1 paper

NM_001288.6

p.A215T

c.643G>A

1 paper

NM_001288.6

p.S221P

c.661T>C

1 paper

NM_001288.6

p.E227K

c.679G>A

1 paper

NM_001288.6

p.E228Q

c.682G>C

1 paper

NM_001288.6

p.D76N

c.226G>A