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.E924K

c.2770G>A

Surrounding Variants

1 paper

NM_005072.5

p.R948*

c.2842C>T

1 paper

NM_005072.5

p.L899P

c.2696T>C

1 paper

NM_005072.5

p.V897A

c.2690T>C

1 paper

NM_005072.5

p.L895V

c.2683C>G

1 paper

NM_005072.5

p.A882A

c.2646C>T

1 paper

NM_005072.5

p.T880S

c.2638A>T

1 paper

NM_005072.5

p.R877H

c.2630G>A

1 paper

NM_005072.5

p.R877C

c.2629C>T

1 paper

NM_005072.5

p.R875Q

c.2624G>A

1 paper

NM_005072.5

p.H957Q

c.2871C>G

1 paper

NM_005072.5

p.H957Q

c.2871C>A

1 paper

NM_005072.5

p.A959A

c.2877C>A