Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A3
Variant:p.G407delFs

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.G407delFs
c.1221delT
Surrounding Variants
1 paper
NM_000111.3
p.S405T
c.1214G>C
1 paper
NM_000111.3
p.Q403*
c.1207C>T
2 papers
NM_000111.3
p.S400P
c.1198T>C
3 papers
NM_000111.3
p.S398F
c.1193C>T
1 paper
NM_000111.3
p.S398T
c.1192T>A
2 papers
NM_000111.3
p.S394I
c.1181G>T
1 paper
NM_000111.3
p.G393insFs
c.1178dupG
1 paper
NM_000111.3
p.G393A
c.1178G>C
2 papers
NM_000111.3
p.G393W
c.1177G>T
1 paper
NM_000111.3
p.A392S
c.1174G>T
2 papers
NM_000111.3
p.I383delFs
c.1148_1149delTA
1 paper
NM_000111.3
p.I383fs
c.1147_1148fs
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