Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A3
Variant:p.A433A

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
10 papers
NM_000111.3
p.A433A
c.1299G>A
Surrounding Variants
2 papers
NM_000111.3
p.L432delFs
c.1295delA
2 papers
NM_000111.3
p.L432fs
c.1294_1295fs
3 papers
NM_000111.3
p.Q436*
c.1306C>T
1 paper
NM_000111.3
p.Q436R
c.1307A>G
1 paper
NM_000111.3
p.K437*
c.1309A>T
1 paper
NM_000111.3
p.K437_S438Splc
c.1311+16G>T
1 paper
NM_000111.3
p.V421M
c.1261G>A
1 paper
NM_000111.3
p.I416L
c.1246A>C
1 paper
NM_000111.3
p.L415insFs
c.1244dupT
1 paper
NM_000111.3
p.L415P
c.1244T>C
1 paper
NM_000111.3
p.G407delFs
c.1221delT
1 paper
NM_000111.3
p.S405T
c.1214G>C
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