Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A3
Variant:p.L711*

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
2 papers
NM_000111.3
p.L711*
c.2132T>A
Surrounding Variants
2 papers
NM_000111.3
p.L711*
c.2132T>G
1 paper
NM_000111.3
p.F709delFs
c.2127delA
1 paper
NM_000111.3
p.T712K
c.2135C>A
1 paper
NM_000111.3
p.H714R
c.2141A>G
1 paper
NM_000111.3
p.D715N
c.2143G>A
4 papers
NM_000111.3
p.S706delFs
c.2116delT
1 paper
NM_000111.3
p.K723N
c.2169G>T
1 paper
NM_000111.3
p.K723N
c.2169G>C
1 paper
NM_000111.3
p.E698Q
c.2092G>C
1 paper
NM_000111.3
p.S727T
c.2180G>C
15 papers
NM_000111.3
p.D688Splc
c.2063-1G>T
1 paper
NM_000111.3
p.D688H
c.2062G>C
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."