Varaico: Literature-Extracted Genetic Variants

Gene:SLC4A5
Variant:p.G457ins1

SLC4A5

103 papers

RefSeq Summary

This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH reg...

Pfam Domains

Band_3_cytoaa 111–407UCSCBand 3 cytoplasmic domain
HCO3_cotranspaa 493–1074UCSCHCO3- transporter integral membrane domain

Gene Aliases

HGNC Name

solute carrier family 4 member 5

HGNC Alias Symbol

NBC4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_133478.3
p.G457ins1
c.1370_1371insTGG
Surrounding Variants
1 paper
NM_133478.3
p.G456_G457del1
c.1368_1370delCCA
1 paper
NM_133478.3
p.G456_G457del2
c.1366_1370del6
1 paper
NM_133478.3
p.G451E
c.1352G>A
2 papers
NM_133478.3
p.G468S
c.1402G>A
1 paper
NM_133478.3
p.D474E
c.1422T>G
1 paper
NM_133478.3
p.D474E
c.1422T>A
1 paper
NM_133478.3
p.P479L
c.1436C>T
1 paper
NM_133478.3
p.G485W
c.1453G>T
1 paper
NM_133478.3
p.S428F
c.1283C>T
1 paper
NM_133478.3
p.S428T
c.1282T>A
1 paper
NM_133478.3
p.S425Y
c.1274C>A
1 paper
NM_133478.3
p.R423Splc
c.1268+80C>A
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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."