Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A8
Variant:p.R152C

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
Selected Variant
2 papers
NM_001039960.3
p.R152C
c.454C>T
Surrounding Variants
1 paper
NM_001039960.3
p.G150G
c.450A>C
1 paper
NM_001039960.3
p.G150R
c.448G>C
1 paper
NM_001039960.3
p.G149R
c.445G>C
1 paper
NM_001039960.3
p.E147A
c.440A>C
1 paper
NM_001039960.3
p.E143A
c.428A>C
2 papers
NM_001039960.3
p.L140R
c.419T>G
1 paper
NM_001039960.3
p.C172F
c.515G>T
1 paper
NM_001039960.3
p.A184V
c.551C>T
1 paper
NM_001039960.3
p.S186C
c.556A>T
1 paper
NM_001039960.3
p.D192V
c.575A>T
1 paper
NM_001039960.3
p.D130V
c.389A>T
1 paper
NM_001039960.3
p.Q97P
c.290A>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."