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

9 papers

NM_001046.3

p.E979K

c.2935G>A

Surrounding Variants

5 papers

NM_001046.3

p.E980K

c.2938G>A

3 papers

NM_001046.3

p.E980V

c.2939A>T

1 paper

NM_001046.3

p.V977Splc

c.2930-1G>A

9 papers

NM_001046.3

p.D981Y

c.2941G>T

8 papers

NM_001046.3

p.V977Splc

c.2930-2A>G

1 paper

NM_001046.3

p.V977_E978delFs

c.2930_2934del5

2 papers

NM_001046.3

p.V977_E993del0

c.2930_2977del48

1 paper

NM_001046.3

p.Q987E

c.2959C>G

9 papers

NM_001046.3

p.P988T

c.2962C>A

3 papers

NM_001046.3

p.P988S

c.2962C>T

2 papers

NM_001046.3

p.P988fs

c.2962_2963fs

1 paper

NM_001046.3

p.K992del1

c.2974_2975delAAA