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

1–12 of 36 variants

16 papers

NM_001289.6

p.H101Q

c.303C>G

16 papers

NM_001289.6

p.H101Q

c.303C>A

3 papers

NM_001289.6

p.P160A

c.478C>G

2 papers

NM_001289.6

p.S109C

c.326C>G

2 papers

NM_001289.6

p.F120L

c.358T>C

2 papers

NM_001289.6

p.F120L

c.360T>G

2 papers

NM_001289.6

p.F120L

c.360T>A

1 paper

NM_001289.6

p.P6fs

c.16_17fs

1 paper

NM_001289.6

p.D11E

c.33C>A

1 paper

NM_001289.6

p.L16P

c.47T>C

1 paper

NM_001289.6

p.D23V

c.68A>T

1 paper

NM_001289.6

p.N29K

c.87C>G