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.H3H

c.9C>T

Surrounding Variants

1 paper

NM_005072.5

p.F4F

c.12C>T

1 paper

NM_005072.5

p.M1I

c.3G>T

1 paper

NM_005072.5

p.M1I

c.3G>C

3 papers

NM_005072.5

p.M1I

c.3G>A

1 paper

NM_005072.5

p.M1insFs

c.1dupA

1 paper

NM_005072.5

p.V9M

c.25G>A

1 paper

NM_005072.5

p.D10Y

c.28G>T

1 paper

NM_005072.5

p.R14C

c.40C>T

1 paper

NM_005072.5

p.R14H

c.41G>A

1 paper

NM_005072.5

p.G15R

c.43G>C

1 paper

NM_005072.5

p.G15D

c.44G>A

1 paper

NM_005072.5

p.E21K

c.61G>A