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.I456V

c.1366A>G

Surrounding Variants

1 paper

NM_005072.5

p.D446V

c.1337A>T

1 paper

NM_005072.5

p.R445C

c.1333C>T

1 paper

NM_005072.5

p.D443G

c.1328A>G

1 paper

NM_005072.5

p.R440P

c.1319G>C

1 paper

NM_005072.5

p.N439T

c.1316A>C

1 paper

NM_005072.5

p.L423L

c.1269G>C

1 paper

NM_005072.5

p.L410V

c.1228C>G

1 paper

NM_005072.5

p.P409H

c.1226C>A

1 paper

NM_005072.5

p.E406K

c.1216G>A

1 paper

NM_005072.5

p.P402L

c.1205C>T

1 paper

NM_005072.5

p.P402Q

c.1205C>A

1 paper

NM_005072.5

p.A401T

c.1201G>A