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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC26A1

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 239 variants

11 papers

chr4:991150 G>A

NM_022042.4

p.T185M

c.554C>T

Sulfate_transp

Exome: 0.0% (AC=429, hom=0)Genome: 0.0% (AC=28, hom=0)14 overlapping SVs

11 papers

chr4:989866 G>A

NM_022042.4

p.S358L

c.1073C>T

Sulfate_transp

Exome: 0.0% (AC=554, hom=0)Genome: 0.0% (AC=50, hom=0)14 overlapping SVs

9 papers

chr4:989272 T>C

NM_022042.4

p.Q556R

c.1667A>G

STAS

Exome: 65.2% (AC=952423, hom=311615)Genome: 66.2% (AC=100791, hom=33573)12 overlapping SVs

5 papers

chr4:991538 C>T

NM_022042.4

p.A56T

c.166G>A

Exome: 0.1% (AC=916, hom=0)Genome: 0.1% (AC=95, hom=0)14 overlapping SVs

5 papers

chr4:989896 A>G

NM_022042.4

p.L348P

c.1043T>C

Sulfate_transp

Exome: 0.3% (AC=3890, hom=10)Genome: 0.2% (AC=322, hom=2)14 overlapping SVs

4 papers

chr4:991581 G>C

NM_022042.4

p.C41W

c.123C>G

Exome: 1.2% (AC=17317, hom=126)Genome: 0.8% (AC=1194, hom=7)14 overlapping SVs

4 papers

chr4:989837 C>T

NM_022042.4

p.G368S

c.1102G>A

Sulfate_transp

Exome: 2.6% (AC=37545, hom=574)Genome: 2.3% (AC=3513, hom=65)14 overlapping SVs

4 papers

chr4:989824 C>T

NM_022042.4

p.R372H

c.1115G>A

Sulfate_transp

Exome: 1.1% (AC=15188, hom=135)Genome: 1.0% (AC=1480, hom=21)14 overlapping SVs

3 papers

chr4:991309 A>G

NM_022042.4

p.M132T

c.395T>C

Sulfate_transp

Exome: 0.0% (AC=10, hom=0)Genome: n/a15 overlapping SVs

3 papers

chr4:991176 G>C

NM_022042.4

p.Y176*

c.528C>G

Sulfate_transp

exact variant not in gnomAD15 overlapping SVs

3 papers

chr4:991176 G>T

NM_022042.4

p.Y176*

c.528C>A

Sulfate_transp

Exome: 0.0% (AC=89, hom=0)Genome: 0.0% (AC=10, hom=0)15 overlapping SVs

3 papers

chr4:989695 G>A

NM_022042.4

p.S415F

c.1244C>T

Sulfate_transp

Exome: 0.0% (AC=662, hom=0)Genome: 0.0% (AC=59, hom=0)13 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."