Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A1
Variant:p.W249*

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
2 papers
NM_022042.4
p.W249*
c.747G>A
Surrounding Variants
2 papers
NM_022042.4
p.W249*
c.746G>A
1 paper
NM_022042.4
p.S251R
c.751A>C
1 paper
NM_022042.4
p.S251R
c.753C>G
1 paper
NM_022042.4
p.S251R
c.753C>A
1 paper
NM_022042.4
p.M244T
c.731T>C
1 paper
NM_022042.4
p.G255D
c.764G>A
1 paper
NM_022042.4
p.G241E
c.722G>A
1 paper
NM_022042.4
p.Q258*
c.772C>T
1 paper
NM_022042.4
p.A259D
c.776C>A
1 paper
NM_022042.4
p.N260S
c.779A>G
1 paper
NM_022042.4
p.R238L
c.713G>T
1 paper
NM_022042.4
p.R238Q
c.713G>A
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