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.M183T

c.548T>C

Surrounding Variants

1 paper

NM_001178015.2

p.N176N

c.528T>C

1 paper

NM_001178015.2

p.A192S

c.574G>T

1 paper

NM_001178015.2

p.R171I

c.512G>T

1 paper

NM_001178015.2

p.L162P

c.485T>C

1 paper

NM_001178015.2

p.G150G

c.450A>C

1 paper

NM_001178015.2

p.G150R

c.448G>C

1 paper

NM_001178015.2

p.D149H

c.445G>C

1 paper

NM_001178015.2

p.E145D

c.435A>C

2 papers

NM_001178015.2

p.K142T

c.425A>C

1 paper

NM_001178015.2

p.W140R

c.418T>A

1 paper

NM_001178015.2

p.W140R

c.418T>C

1 paper

NM_001178015.2

p.W140fs

c.418_419fs