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.D896E

c.2688T>G

Surrounding Variants

1 paper

NM_001046.3

p.D896E

c.2688T>A

1 paper

NM_001046.3

p.R898K

c.2693G>A

6 papers

NM_001046.3

p.W892*

c.2676G>A

8 papers

NM_001046.3

p.W892*

c.2675G>A

1 paper

NM_001046.3

p.D891A

c.2672A>C

1 paper

NM_001046.3

p.A874V

c.2621C>T

8 papers

NM_001046.3

p.Q872_A873Splc

c.2617-2A>G

1 paper

NM_001046.3

p.G916R

c.2746G>A

1 paper

NM_001046.3

p.G916V

c.2747G>T

1 paper

NM_001046.3

p.G916G

c.2748A>T

1 paper

NM_001046.3

p.I920L

c.2758A>C

1 paper

NM_001046.3

p.R921C

c.2761C>T