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.N274K

c.822C>A

Surrounding Variants

1 paper

NM_005072.5

p.N274K

c.822C>G

1 paper

NM_005072.5

p.K275R

c.824A>G

1 paper

NM_005072.5

p.L279P

c.836T>C

1 paper

NM_005072.5

p.A282S

c.844G>T

1 paper

NM_005072.5

p.V265V

c.795G>A

1 paper

NM_005072.5

p.G255R

c.763G>A

1 paper

NM_005072.5

p.I296M

c.888A>G

1 paper

NM_005072.5

p.N249K

c.747C>G

1 paper

NM_005072.5

p.N249K

c.747C>A

1 paper

NM_005072.5

p.A246_L248del3

c.736_743del9

1 paper

NM_005072.5

p.A246T

c.736G>A

1 paper

NM_005072.5

p.V304M

c.910G>A