Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A3
Variant:p.F119L

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.F119L
c.357C>G
Surrounding Variants
2 papers
NM_000111.3
p.F119F
c.357C>T
1 paper
NM_000111.3
p.F119L
c.357C>A
2 papers
NM_000111.3
p.G120C
c.358G>T
7 papers
NM_000111.3
p.G120S
c.358G>A
1 paper
NM_000111.3
p.F119L
c.355T>C
3 papers
NM_000111.3
p.F118delFs
c.354delG
1 paper
NM_000111.3
p.F119fs
c.355_356fs
1 paper
NM_000111.3
p.L117F
c.349C>T
2 papers
NM_000111.3
p.I114_Y116delFs
c.341_347del7
3 papers
NM_000111.3
p.Y116F
c.347A>T
8 papers
NM_000111.3
p.I115delFs
c.344delA
7 papers
NM_000111.3
p.H124L
c.371A>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."