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.S244A

c.730T>G

Surrounding Variants

1 paper

NM_005072.5

p.S244*

c.731C>A

1 paper

NM_005072.5

p.T243M

c.728C>T

1 paper

NM_005072.5

p.T243S

c.727A>T

1 paper

NM_005072.5

p.A240_D242del3

c.718_725del9

1 paper

NM_005072.5

p.N245I

c.734A>T

1 paper

NM_005072.5

p.N245T

c.734A>C

1 paper

NM_005072.5

p.A246T

c.736G>A

1 paper

NM_005072.5

p.A240V

c.719C>T

1 paper

NM_005072.5

p.G239A

c.716G>C

1 paper

NM_005072.5

p.A246_L248del3

c.736_743del9

1 paper

NM_005072.5

p.S238L

c.713C>T

1 paper

NM_005072.5

p.N249K

c.747C>G