Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A8

SLC4A8

81 papers

RefSeq Summary

The protein encoded by this gene is a membrane protein that functions to transport sodium and bicarbonate ions across the cell membrane. The encoded protein is important for pH regulation in neurons. ...

Pfam Domains

Band_3_cytoaa 114–403UCSCBand 3 cytoplasmic domain
HCO3_cotranspaa 450–1009UCSCHCO3- transporter integral membrane domain

Gene Aliases

HGNC Name

solute carrier family 4 member 8

HGNC Alias Symbol

NBC3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 85 variants
4 papers
NM_001039960.3
p.T717R
c.2150C>G
2 papers
NM_001039960.3
p.L140R
c.419T>G
2 papers
NM_001039960.3
p.R152C
c.454C>T
2 papers
NM_001039960.3
p.A683V
c.2048C>T
2 papers
NM_001039960.3
p.F732_A733insFs
c.2196_2197insAG
2 papers
NM_001039960.3
p.G874D
c.2621G>A
2 papers
NM_001039960.3
p.R927H
c.2780G>A
1 paper
NM_001039960.3
p.Q16*
c.46C>T
1 paper
NM_001039960.3
p.R17K
c.50G>A
1 paper
NM_001039960.3
p.G28R
c.82G>A
1 paper
NM_001039960.3
p.G28R
c.82G>C
1 paper
NM_001039960.3
p.E43Q
c.127G>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."