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

1–12 of 113 variants

3 papers

NM_001178015.2

p.R757*

c.2269C>T

2 papers

NM_001178015.2

p.R17S

c.51A>C

2 papers

NM_001178015.2

p.R17S

c.51A>T

2 papers

NM_001178015.2

p.K142T

c.425A>C

2 papers

NM_001178015.2

p.V282A

c.845T>C

2 papers

NM_001178015.2

p.L647P

c.1940T>C

2 papers

NM_001178015.2

p.W873*

c.2618G>A

2 papers

NM_001178015.2

p.W873*

c.2619G>A

2 papers

NM_001178015.2

p.Q954_F955Splc

c.2863-2A>C

1 paper

NM_001178015.2

p.M1T

c.2T>C

1 paper

NM_001178015.2

p.D5N

c.13G>A

1 paper

NM_001178015.2

p.D5G

c.14A>G