Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A3
Variant:p.S654P

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.S654P
c.1960T>C
Surrounding Variants
13 papers
NM_000111.3
p.D652N
c.1954G>A
4 papers
NM_000111.3
p.L651L
c.1953T>C
1 paper
NM_000111.3
p.V656A
c.1967T>C
1 paper
NM_000111.3
p.V656_L659del4
c.1966_1976del12
1 paper
NM_000111.3
p.S645insFs
c.1934dupG
1 paper
NM_000111.3
p.S657_V661del5
c.1969_1982del15
1 paper
NM_000111.3
p.V664delFs
c.1990delC
1 paper
NM_000111.3
p.R665T
c.1994G>C
1 paper
NM_000111.3
p.G666delFs
c.1996delC
1 paper
NM_000111.3
p.E640G
c.1919A>G
2 papers
NM_000111.3
p.I639V
c.1915A>G
1 paper
NM_000111.3
p.S669L
c.2006C>T
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