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.V706M

c.2116G>A

Surrounding Variants

1 paper

NM_005072.5

p.L711P

c.2132T>C

1 paper

NM_005072.5

p.L694L

c.2082G>C

1 paper

NM_005072.5

p.A720V

c.2159C>T

1 paper

NM_005072.5

p.I726I

c.2178T>C

1 paper

NM_005072.5

p.S729C

c.2186C>G

1 paper

NM_005072.5

p.Q732E

c.2194C>G

1 paper

NM_005072.5

p.Q747P

c.2240A>C

1 paper

NM_005072.5

p.R679L

c.2036G>T

1 paper

NM_005072.5

p.L677P

c.2030T>C

1 paper

NM_005072.5

p.E660K

c.1978G>A

1 paper

NM_005072.5

p.K659N

c.1977G>T

1 paper

NM_005072.5

p.K659N

c.1977G>C