Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A1
Variant:p.Q135K

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.Q135K
c.403C>A
Surrounding Variants
1 paper
NM_022042.4
p.Q135P
c.404A>C
3 papers
NM_022042.4
p.M132T
c.395T>C
2 papers
NM_022042.4
p.D138A
c.413A>C
1 paper
NM_022042.4
p.E140K
c.418G>A
1 paper
NM_022042.4
p.G145S
c.433G>A
1 paper
NM_022042.4
p.V123M
c.367G>A
1 paper
NM_022042.4
p.P148S
c.442C>T
1 paper
NM_022042.4
p.V121D
c.362T>A
1 paper
NM_022042.4
p.R119L
c.356G>T
1 paper
NM_022042.4
p.D151H
c.451G>C
1 paper
NM_022042.4
p.R119W
c.355C>T
1 paper
NM_022042.4
p.G116_S118del0
c.346_354del9
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