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

2 papers

NM_005072.5

p.V87I

c.259G>A

Surrounding Variants

1 paper

NM_005072.5

p.Y89C

c.266A>G

1 paper

NM_005072.5

p.G84V

c.251G>T

1 paper

NM_005072.5

p.Y89Y

c.267C>T

1 paper

NM_005072.5

p.L82_L83del2

c.244_248del6

1 paper

NM_005072.5

p.L82_L83del1

c.246_248delAGA

1 paper

NM_005072.5

p.L82V

c.244C>G

1 paper

NM_005072.5

p.S80_S81del1

c.240_242delGAC

1 paper

NM_005072.5

p.S81C

c.242C>G

1 paper

NM_005072.5

p.S80L

c.239C>T

1 paper

NM_005072.5

p.S80*

c.239C>A

1 paper

NM_005072.5

p.G95G

c.285C>T

1 paper

NM_005072.5

p.A96T

c.286G>A