Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A10
Variant:p.E306D

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.E306D
c.918A>C
Surrounding Variants
1 paper
NM_001178015.2
p.E306D
c.918A>T
1 paper
NM_001178015.2
p.E314Q
c.940G>C
1 paper
NM_001178015.2
p.Q291K
c.871C>A
1 paper
NM_001178015.2
p.K286_G287Splc
c.858+3G>A
2 papers
NM_001178015.2
p.V282A
c.845T>C
1 paper
NM_001178015.2
p.V269F
c.805G>T
1 paper
NM_001178015.2
p.A267P
c.799G>C
1 paper
NM_001178015.2
p.A331T
c.991G>A
1 paper
NM_001178015.2
p.R344Q
c.1031G>A
1 paper
NM_001178015.2
p.R344L
c.1031G>T
1 paper
NM_001178015.2
p.A348G
c.1043C>G
1 paper
NM_001178015.2
p.R351T
c.1052G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."