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

2 papers

NM_001046.3

p.S79R

c.237C>G

Surrounding Variants

2 papers

NM_001046.3

p.S79R

c.237C>A

1 paper

NM_001046.3

p.R80G

c.238C>G

2 papers

NM_001046.3

p.S79R

c.235A>C

1 paper

NM_001046.3

p.S79delFs

c.235delA

1 paper

NM_001046.3

p.F81V

c.241T>G

1 paper

NM_001046.3

p.E88insFs

c.263_264insCC

1 paper

NM_001046.3

p.L68Q

c.203T>A

2 papers

NM_001046.3

p.A95_A96ins1

c.285_286insGCG

1 paper

NM_001046.3

p.A102_A103del1

c.306_308delGGC

1 paper

NM_001046.3

p.A96_A97del0

c.286_291del6

1 paper

NM_001046.3

p.A96_A99del0

c.286_297del12

1 paper

NM_001046.3

p.A99_A100ins4

c.297_298ins12