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

Selected Variant

3 papers

NM_005072.5

p.I571T

c.1712T>C

Surrounding Variants

1 paper

NM_005072.5

p.I569T

c.1706T>C

1 paper

NM_005072.5

p.D575A

c.1724A>C

1 paper

NM_005072.5

p.I564I

c.1692C>A

1 paper

NM_005072.5

p.L560L

c.1680G>A

1 paper

NM_005072.5

p.L558P

c.1673T>C

1 paper

NM_005072.5

p.G552V

c.1655G>T

1 paper

NM_005072.5

p.L542F

c.1624C>T

1 paper

NM_005072.5

p.K535N

c.1605G>T

1 paper

NM_005072.5

p.A518V

c.1553C>T

1 paper

NM_005072.5

p.T515T

c.1545G>A

1 paper

NM_005072.5

p.G510S

c.1528G>A

1 paper

NM_005072.5

p.V508I

c.1522G>A