Varaico: Literature-Extracted Genetic Variants

CLIC2

47 papers

RefSeq Summary

This gene encodes a chloride intracellular channel protein. Chloride channels are a diverse group of proteins that regulate fundamental cellular processes including stabilization of cell membrane pote...

Pfam Domains

CLIC-like_Naa 12–97UCSCCLIC-like N-terminal domain

GST_C_2aa 127–218UCSCGlutathione S-transferase, C-terminal domain

Gene Aliases

HGNC Name

chloride intracellular channel 2

HGNC Alias Symbols

XAP121; CLCNL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001289.6

p.Q92K

c.274C>A

Surrounding Variants

1 paper

NM_001289.6

p.L94Q

c.281T>A

1 paper

NM_001289.6

p.E87Q

c.259G>C

1 paper

NM_001289.6

p.E87K

c.259G>A

1 paper

NM_001289.6

p.K85N

c.255A>T

1 paper

NM_001289.6

p.K85N

c.255A>C

1 paper

NM_001289.6

p.V74M

c.220G>A

1 paper

NM_001289.6

p.E59*

c.175G>T

1 paper

NM_001289.6

p.N48insFs

c.143dupA

1 paper

NM_001289.6

p.K43E

c.127A>G

1 paper

NM_001289.6

p.N29K

c.87C>G

1 paper

NM_001289.6

p.N29K

c.87C>A

1 paper

NM_001289.6

p.D23V

c.68A>T