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.S183R

c.549C>A

Surrounding Variants

1 paper

NM_001046.3

p.S183R

c.549C>G

1 paper

NM_001046.3

p.S183R

c.547A>C

4 papers

NM_001046.3

p.L185insFs

c.555dupG

5 papers

NM_001046.3

p.H186fs

c.556_557fs

1 paper

NM_001046.3

p.H186Y

c.556C>T

2 papers

NM_001046.3

p.H186fs

c.556_557fs

1 paper

NM_001046.3

p.E181fs

c.541_542fs

1 paper

NM_001046.3

p.S180insFs

c.539_540insG

1 paper

NM_001046.3

p.T177A

c.529A>G

1 paper

NM_001046.3

p.D176G

c.527A>G

1 paper

NM_001046.3

p.G191R

c.571G>C

1 paper

NM_001046.3

p.D176fs

c.526_527fs