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.L151L

c.451C>T

Surrounding Variants

2 papers

NM_005072.5

p.G149C

c.445G>T

1 paper

NM_005072.5

p.A153P

c.457G>C

1 paper

NM_005072.5

p.L154P

c.461T>C

1 paper

NM_005072.5

p.L155F

c.463C>T

1 paper

NM_005072.5

p.T147S

c.439A>T

1 paper

NM_005072.5

p.W143*

c.429G>A

1 paper

NM_005072.5

p.R140Q

c.419G>A

1 paper

NM_005072.5

p.V135A

c.404T>C

1 paper

NM_005072.5

p.G134G

c.402G>A

1 paper

NM_005072.5

p.G134V

c.401G>T

1 paper

NM_005072.5

p.F133L

c.399T>G

1 paper

NM_005072.5

p.F133L

c.399T>A