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.M382L

c.1144A>T

Surrounding Variants

1 paper

NM_001046.3

p.M382L

c.1144A>C

1 paper

NM_001046.3

p.A381S

c.1141G>T

1 paper

NM_001046.3

p.Y383N

c.1147T>A

1 paper

NM_001046.3

p.Y383S

c.1148A>C

2 papers

NM_001046.3

p.Y383C

c.1148A>G

3 papers

NM_001046.3

p.Y383F

c.1148A>T

1 paper

NM_001046.3

p.A379P

c.1135G>C

3 papers

NM_001046.3

p.A379delins

c.1135_1136delinsCT

2 papers

NM_001046.3

p.A379delFs

c.1135_1136delGC

1 paper

NM_001046.3

p.V378I

c.1132G>A

1 paper

NM_001046.3

p.G386A

c.1157G>C

1 paper

NM_001046.3

p.F387V

c.1159T>G