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.V124fs

c.370_371fs

Surrounding Variants

1 paper

NM_005072.5

p.V124V

c.372G>A

1 paper

NM_005072.5

p.G123W

c.367G>T

1 paper

NM_005072.5

p.C128Y

c.383G>A

1 paper

NM_005072.5

p.Q130H

c.390G>T

1 paper

NM_005072.5

p.N131Y

c.391A>T

1 paper

NM_005072.5

p.F133L

c.397T>C

1 paper

NM_005072.5

p.A115P

c.343G>C

1 paper

NM_005072.5

p.F133L

c.399T>G

1 paper

NM_005072.5

p.F133L

c.399T>A

1 paper

NM_005072.5

p.G134V

c.401G>T

1 paper

NM_005072.5

p.G134G

c.402G>A

1 paper

NM_005072.5

p.V135A

c.404T>C