Varaico: Literature-Extracted Genetic Variants

SLC4A10

89 papers

RefSeq Summary

This gene belongs to a small family of sodium-coupled bicarbonate transporters (NCBTs) that regulate the intracellular pH of neurons, the secretion of bicarbonate ions across the choroid plexus, and t...

Pfam Domains

Band_3_cytoaa 115–434UCSCBand 3 cytoplasmic domain

HCO3_cotranspaa 481–1040UCSCHCO3- transporter integral membrane domain

Gene Aliases

HGNC Name

solute carrier family 4 member 10

HGNC Alias Symbols

NBCn2; NCBE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001178015.2

p.E536delFs

c.1606delG

Surrounding Variants

1 paper

NM_001178015.2

p.R538C

c.1612C>T

1 paper

NM_001178015.2

p.I525N

c.1574T>A

1 paper

NM_001178015.2

p.A519T

c.1555G>A

1 paper

NM_001178015.2

p.A511V

c.1532C>T

1 paper

NM_001178015.2

p.W498*

c.1494G>A

1 paper

NM_001178015.2

p.W498*

c.1493G>A

1 paper

NM_001178015.2

p.W498R

c.1492T>C

1 paper

NM_001178015.2

p.S556F

c.1667C>T

1 paper

NM_001178016.2

p.L538F

c.1612C>T

1 paper

NM_001178015.2

p.P571Q

c.1712C>A

1 paper

NM_001178015.2

p.K577M

c.1730A>T

1 paper

NM_001178015.2

p.R622R

c.1864C>A