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.V144fs

c.430_431fs

Surrounding Variants

1 paper

NM_001046.3

p.D145N

c.433G>A

1 paper

NM_001046.3

p.A147T

c.439G>A

1 paper

NM_001046.3

p.R138H

c.413G>A

1 paper

NM_001046.3

p.S150W

c.449C>G

1 paper

NM_001046.3

p.G137S

c.409G>A

1 paper

NM_001046.3

p.L156P

c.467T>C

1 paper

NM_001046.3

p.K130R

c.389A>G

1 paper

NM_001046.3

p.E127A

c.380A>C

1 paper

NM_001046.3

p.S126N

c.377G>A

1 paper

NM_001046.3

p.G166R

c.496G>A

1 paper

NM_001046.3

p.N168D

c.502A>G

1 paper

NM_001046.3

p.N168T

c.503A>C