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

1 paper

NM_005072.5

p.S624I

c.1871G>T

Surrounding Variants

1 paper

NM_005072.5

p.L643F

c.1927C>T

1 paper

NM_005072.5

p.G646D

c.1937G>A

1 paper

NM_005072.5

p.M647I

c.1941G>T

1 paper

NM_005072.5

p.M647I

c.1941G>C

1 paper

NM_005072.5

p.M647I

c.1941G>A

1 paper

NM_005072.5

p.Y654Y

c.1962C>T

1 paper

NM_005072.5

p.G656A

c.1967G>C

1 paper

NM_005072.5

p.K659N

c.1977G>T

1 paper

NM_005072.5

p.K659N

c.1977G>C

1 paper

NM_005072.5

p.E660K

c.1978G>A

2 papers

NM_005072.5

p.A597V

c.1790C>T

1 paper

NM_005072.5

p.M587T

c.1760T>C