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.D1001D

c.3003C>T

Surrounding Variants

1 paper

NM_005072.5

p.T991A

c.2971A>G

1 paper

NM_005072.5

p.D968G

c.2903A>G

1 paper

NM_005072.5

p.A959A

c.2877C>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.H1034Q

c.3102C>A

1 paper

NM_005072.5

p.R948*

c.2842C>T

1 paper

NM_005072.5

p.E924K

c.2770G>A

1 paper

NM_005072.5

p.Y1056D

c.3166T>G

1 paper

NM_005072.5

p.Y1056F

c.3167A>T

1 paper

NM_005072.5

p.E1061Q

c.3181G>C

1 paper

NM_005072.5

p.E1061K

c.3181G>A