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

7 papers

NM_001046.3

p.R410Q

c.1229G>A

Surrounding Variants

1 paper

NM_001046.3

p.G413A

c.1238G>C

1 paper

NM_001046.3

p.A414G

c.1241C>G

1 paper

NM_001046.3

p.V417V

c.1251C>T

1 paper

NM_001046.3

p.L421F

c.1263A>C

1 paper

NM_001046.3

p.L421F

c.1263A>T

1 paper

NM_001046.3

p.S399delFs

c.1195delT

1 paper

NM_001046.3

p.E429A

c.1286A>C

1 paper

NM_001046.3

p.E431Q

c.1291G>C

1 paper

NM_001046.3

p.E431A

c.1292A>C

1 paper

NM_001046.3

p.A432V

c.1295C>T

2 papers

NM_001046.3

p.Q435*

c.1303C>T

1 paper

NM_001046.3

p.I441_D448delFs

c.1323_1344del22