Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A1
Variant:p.Y176*

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
3 papers
NM_022042.4
p.Y176*
c.528C>G
Surrounding Variants
3 papers
NM_022042.4
p.Y176*
c.528C>A
1 paper
NM_022042.4
p.A183T
c.547G>A
11 papers
NM_022042.4
p.T185M
c.554C>T
1 paper
NM_022042.4
p.L186P
c.557T>C
1 paper
NM_022042.4
p.G189R
c.565G>C
1 paper
NM_022042.4
p.G189R
c.565G>A
1 paper
NM_022042.4
p.L162_N163insCA
c.484_488ins6
1 paper
NM_022042.4
p.Q192K
c.574C>A
1 paper
NM_022042.4
p.S160C
c.478A>T
1 paper
NM_022042.4
p.G156R
c.466G>C
1 paper
NM_022042.4
p.G156R
c.466G>A
1 paper
NM_022042.4
p.D151H
c.451G>C
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