Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A3
Variant:p.I544N

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
15 papers
NM_000111.3
p.I544N
c.1631T>A
Surrounding Variants
1 paper
NM_000111.3
p.I544I
c.1632C>A
1 paper
NM_000111.3
p.S542Fs
c.1624_1626delinsCFs
1 paper
NM_000111.3
p.A547E
c.1640C>A
2 papers
NM_000111.3
p.N548K
c.1644C>G
2 papers
NM_000111.3
p.N548K
c.1644C>A
1 paper
NM_000111.3
p.I549N
c.1646T>A
2 papers
NM_000111.3
p.I537delFs
c.1609delT
2 papers
NM_000111.3
p.F551F
c.1653C>T
1 paper
NM_000111.3
p.F551delFs
c.1652delA
1 paper
NM_000111.3
p.V535E
c.1604T>A
1 paper
NM_000111.3
p.R554W
c.1660C>T
7 papers
NM_000111.3
p.R554Q
c.1661G>A
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