Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A1
Variant:p.C41W

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
4 papers
NM_022042.4
p.C41W
c.123C>G
Surrounding Variants
1 paper
NM_022042.4
p.S42T
c.125G>C
1 paper
NM_022042.4
p.C39Y
c.116G>A
1 paper
NM_022042.4
p.S38R
c.112A>C
1 paper
NM_022042.4
p.Q51*
c.151C>T
1 paper
NM_022042.4
p.L53P
c.158T>C
1 paper
NM_022042.4
p.L54F
c.160C>T
1 paper
NM_022042.4
p.E29*
c.85G>T
1 paper
NM_022042.4
p.E29Q
c.85G>C
1 paper
NM_022042.4
p.L54_P55insFs
c.162_163insCA
5 papers
NM_022042.4
p.A56T
c.166G>A
1 paper
NM_022042.4
p.R25R
c.75G>C
1 paper
NM_022042.4
p.R58C
c.172C>T
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