Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A3
Variant:p.G187*

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
41 papers
NM_000111.3
p.G187*
c.559G>T
Surrounding Variants
1 paper
NM_000111.3
p.Q190P
c.569A>C
1 paper
NM_000111.3
p.A177V
c.530C>T
1 paper
NM_000111.3
p.A177T
c.529G>A
1 paper
NM_000111.3
p.V176V
c.528G>T
2 papers
NM_000111.3
p.R175S
c.525G>T
3 papers
NM_000111.3
p.R175S
c.525G>C
1 paper
NM_000111.3
p.E172K
c.514G>A
1 paper
NM_000111.3
p.S167_L168del2
c.499_503del6
1 paper
NM_000111.3
p.L168Q
c.503T>A
1 paper
NM_000111.3
p.S166_S167insFs
c.498_499insC
1 paper
NM_000111.3
p.N165D
c.493A>G
1 paper
NM_000111.3
p.S163A
c.487T>G
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