Varaico: Literature-Extracted Genetic Variants

SLC12A4

100 papers

RefSeq Summary

This gene encodes a member of the SLC12A transporter family. The encoded protein mediates the coupled movement of potassium and chloride ions across the plasma membrane. This gene is expressed ubiquit...

Pfam Domains

AA_permeaseaa 123–309UCSCAmino acid permease

AA_permeaseaa 398–696UCSCAmino acid permease

SLC12aa 708–829UCSCSolute carrier family 12

SLC12aa 827–1085UCSCSolute carrier family 12

Gene Aliases

HGNC Name

solute carrier family 12 member 4

HGNC Alias Symbol

KCC1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 268 variants

3 papers

NM_005072.5

p.M1I

c.3G>A

3 papers

NM_005072.5

p.I571T

c.1712T>C

2 papers

NM_005072.5

p.V87I

c.259G>A

2 papers

NM_005072.5

p.G105E

c.314G>A

2 papers

NM_005072.5

p.G149C

c.445G>T

2 papers

NM_005072.5

p.P230S

c.688C>T

2 papers

NM_005072.5

p.A597V

c.1790C>T

1 paper

NM_005072.5

p.M1insFs

c.1dupA

1 paper

NM_005072.5

p.M1I

c.3G>T

1 paper

NM_005072.5

p.M1I

c.3G>C

1 paper

NM_005072.5

p.H3H

c.9C>T

1 paper

NM_005072.5

p.F4F

c.12C>T