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.L23F

c.67C>T

Surrounding Variants

1 paper

NM_005072.5

p.G22A

c.65G>C

1 paper

NM_005072.5

p.Y17_E21del0

c.51_62del12

1 paper

NM_005072.5

p.E21K

c.61G>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.D27V

c.80A>T

1 paper

NM_005072.5

p.Y28delFs

c.82_83delTA

1 paper

NM_005072.5

p.E30K

c.88G>A

1 paper

NM_005072.5

p.E30D

c.90G>T

1 paper

NM_005072.5

p.E30D

c.90G>C

1 paper

NM_005072.5

p.G15D

c.44G>A

1 paper

NM_005072.5

p.G15R

c.43G>C