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

1–12 of 296 variants

9 papers

NM_001046.3

p.A327V

c.980C>T

9 papers

NM_001046.3

p.E979K

c.2935G>A

9 papers

NM_001046.3

p.D981Y

c.2941G>T

9 papers

NM_001046.3

p.P988T

c.2962C>A

8 papers

NM_001046.3

p.Q872_A873Splc

c.2617-2A>G

8 papers

NM_001046.3

p.W892*

c.2675G>A

8 papers

NM_001046.3

p.V977Splc

c.2930-2A>G

7 papers

NM_001046.3

p.N376I

c.1127A>T

7 papers

NM_001046.3

p.R410Q

c.1229G>A

6 papers

NM_001046.3

p.W892*

c.2676G>A

5 papers

NM_001046.3

p.H186fs

c.556_557fs

5 papers

NM_001046.3

p.E980K

c.2938G>A