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.E30D

c.90G>C

Surrounding Variants

1 paper

NM_005072.5

p.E30D

c.90G>T

1 paper

NM_005072.5

p.R31C

c.91C>T

1 paper

NM_005072.5

p.E30K

c.88G>A

1 paper

NM_005072.5

p.Y28delFs

c.82_83delTA

1 paper

NM_005072.5

p.E33K

c.97G>A

1 paper

NM_005072.5

p.D27V

c.80A>T

1 paper

NM_005072.5

p.L34L

c.102G>A

1 paper

NM_005072.5

p.V26G

c.77T>G

1 paper

NM_005072.5

p.V26A

c.77T>C

1 paper

NM_005072.5

p.D35N

c.103G>A

1 paper

NM_005072.5

p.D36N

c.106G>A

1 paper

NM_005072.5

p.L23F

c.67C>T