Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A1
Variant:p.R504H

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.R504H
c.1511G>A
Surrounding Variants
1 paper
NM_022042.4
p.Q506delFs
c.1516delG
1 paper
NM_022042.4
p.R507H
c.1520G>A
1 paper
NM_022042.4
p.R509H
c.1526G>A
1 paper
NM_022042.4
p.L499F
c.1495C>T
1 paper
NM_022042.4
p.L498V
c.1492C>G
1 paper
NM_022042.4
p.S497L
c.1490C>T
1 paper
NM_022042.4
p.L496R
c.1487T>G
1 paper
NM_022042.4
p.R515H
c.1544G>A
1 paper
NM_022042.4
p.T519M
c.1556C>T
1 paper
NM_022042.4
p.E523K
c.1567G>A
1 paper
NM_022042.4
p.A525T
c.1573G>A
1 paper
NM_022042.4
p.L483Q
c.1448T>A
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