Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A3
Variant:p.G128fs

SLC26A3

407 papers

RefSeq Summary

The protein encoded by this gene is a transmembrane glycoprotein that transports chloride ions across the cell membrane in exchange for bicarbonate ions. It is localized to the mucosa of the lower int...

Pfam Domains

Sulfate_transpaa 73–475UCSCSulfate permease family
STASaa 526–716UCSCSTAS domain

Gene Aliases

HGNC Name

solute carrier family 26 member 3

HGNC Previous Symbols

DRA; CLD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000111.3
p.G128fs
c.382_383fs
Surrounding Variants
2 papers
NM_000111.3
p.G128S
c.382G>A
4 papers
NM_000111.3
p.P129L
c.386C>T
1 paper
NM_000111.3
p.G128Splc
c.383-5A>G
2 papers
NM_000111.3
p.P131A
c.391C>G
5 papers
NM_000111.3
p.P131L
c.392C>T
9 papers
NM_000111.3
p.P131R
c.392C>G
1 paper
NM_000111.3
p.P131delFs
c.392delG
2 papers
NM_000111.3
p.S134N
c.401G>A
1 paper
NM_000111.3
p.M135I
c.405G>T
1 paper
NM_000111.3
p.M135I
c.405G>C
1 paper
NM_000111.3
p.M135I
c.405G>A
1 paper
NM_000111.3
p.M136I
c.408G>T
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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."