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.V773L

c.2317G>C

Surrounding Variants

1 paper

NM_001178015.2

p.I775T

c.2324T>C

1 paper

NM_001178015.2

p.P782T

c.2344C>A

3 papers

NM_001178015.2

p.R757*

c.2269C>T

1 paper

NM_001178015.2

p.R799C

c.2395C>T

1 paper

NM_001178015.2

p.T736I

c.2207C>T

1 paper

NM_001178015.2

p.V730A

c.2189T>C

1 paper

NM_001178015.2

p.L726delFs

c.2176delC

1 paper

NM_001178015.2

p.Y721C

c.2162A>G

1 paper

NM_001178015.2

p.L706F

c.2118G>C

1 paper

NM_001178015.2

p.L706F

c.2118G>T

1 paper

NM_001178015.2

p.S705L

c.2114C>T

1 paper

NM_001178015.2

p.S701L

c.2102C>T