Varaico: Literature-Extracted Genetic Variants

SLC12A6

176 papers

RefSeq Summary

This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium ...

Pfam Domains

AA_permeaseaa 190–384UCSCAmino acid permease

AA_permeaseaa 450–761UCSCAmino acid permease

SLC12aa 773–897UCSCSolute carrier family 12

SLC12aa 891–1150UCSCSolute carrier family 12

Gene Aliases

HGNC Name

solute carrier family 12 member 6

HGNC Previous Symbols

KCC3; ACCPN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001365088.1

p.M648Splc

c.1943+1G>T

Surrounding Variants

2 papers

NM_001365088.1

p.S647P

c.1939T>C

1 paper

NM_001365088.1

p.L646P

c.1937T>C

1 paper

NM_001365088.1

p.I636V

c.1906A>G

1 paper

NM_001365088.1

p.L623S

c.1868T>C

1 paper

NM_001365088.1

p.R608_V609Splc

c.1825-13C>T

1 paper

NM_001365088.1

p.P605L

c.1814C>T

1 paper

NM_001365088.1

p.R593K

c.1778G>A

1 paper

NM_001365088.1

p.A591fs

c.1771_1772fs

1 paper

NM_001365088.1

p.A591delFs

c.1772delG

1 paper

NM_001365088.1

p.A591fs

c.1771_1772fs

1 paper

NM_001365088.1

p.Q586delFs

c.1756delG

1 paper

NM_001365088.1

p.Q586fs

c.1756_1757fs