Varaico: Literature-Extracted Genetic Variants

SLC12A2

246 papers

RefSeq Summary

The protein encoded by this gene mediates sodium and chloride transport and reabsorption. The encoded protein is a membrane protein and is important in maintaining proper ionic balance and cell volume...

Pfam Domains

AA_permease_Naa 202–266UCSCAmino acid permease N-terminal

AA_permeaseaa 290–793UCSCAmino acid permease

SLC12aa 801–1212UCSCSolute carrier family 12

Gene Aliases

HGNC Name

solute carrier family 12 member 2

HGNC Alias Symbols

NKCC1; BSC2; BSC-2; PPP1R141; CCC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001046.3

p.E249K

c.745G>A

Surrounding Variants

1 paper

NM_001046.3

p.D248A

c.743A>C

2 papers

NM_001046.3

p.E245A

c.734A>C

1 paper

NM_001046.3

p.A244E

c.731C>A

1 paper

NM_001046.3

p.S242N

c.725G>A

1 paper

NM_001046.3

p.P241A

c.721C>G

1 paper

NM_001046.3

p.G235A

c.704G>C

2 papers

NM_001046.3

p.T230A

c.688A>G

1 paper

NM_001046.3

p.D219A

c.656A>C

1 paper

NM_001046.3

p.T217S

c.650C>G

3 papers

NM_001046.3

p.T217A

c.649A>G

1 paper

NM_001046.3

p.T217S

c.649A>T

2 papers

NM_001046.3

p.T212A

c.634A>G