Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A1
Variant:p.L292_P293del2

SLC26A1

112 papers

RefSeq Summary

This gene is a member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures, bu...

Pfam Domains

Sulfate_transpaa 69–477UCSCSulfate permease family
STASaa 531–683UCSCSTAS domain

Gene Aliases

HGNC Name

solute carrier family 26 member 1

HGNC Alias Symbols

SAT-1; EDM4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022042.4
p.L292_P293del2
c.874_878del6
Surrounding Variants
1 paper
NM_022042.4
p.E295Q
c.883G>C
1 paper
NM_022042.4
p.P293S
c.877C>T
1 paper
NM_022042.4
p.L296L
c.888G>A
1 paper
NM_022042.4
p.R287H
c.860G>A
1 paper
NM_022042.4
p.V301M
c.901G>A
1 paper
NM_022042.4
p.S306S
c.918G>A
1 paper
NM_022042.4
p.H307Y
c.919C>T
1 paper
NM_022042.4
p.A276V
c.827C>T
2 papers
NM_022042.4
p.L275P
c.824T>C
1 paper
NM_022042.4
p.L275L
c.823C>T
1 paper
NM_022042.4
p.R314C
c.940C>T
1 paper
NM_022042.4
p.L274M
c.820C>A
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