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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC26A8

SLC26A8

145 papers

RefSeq Summary

This gene encodes a member of the SLC26 gene family of anion transporters. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns...

Pfam Domains

Sulfate_transpaa 92–493UCSCSulfate permease family

STASaa 544–791UCSCSTAS domain

Gene Aliases

HGNC Name

solute carrier family 26 member 8

HGNC Alias Symbol

TAT1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 134 variants

10 papers

chr6:36012301 C>T

NM_052961.4

p.R87Q

c.260G>A

Exome: 0.1% (AC=1069, hom=1)Genome: 0.0% (AC=44, hom=0)57 overlapping SVs

9 papers

chr6:35943953 G>A

NM_052961.4

p.R954C

c.2860C>T

Exome: 0.0% (AC=85, hom=0)Genome: 0.0% (AC=4, hom=0)58 overlapping SVs

8 papers

chr6:35951201 C>T

NM_052961.4

p.E812K

c.2434G>A

STAS

Exome: 0.0% (AC=176, hom=1)Genome: 0.1% (AC=104, hom=1)57 overlapping SVs

7 papers

chr6:35955469 T>C

NM_052961.4

p.I639V

c.1915A>G

STAS

Exome: 34.9% (AC=510559, hom=92129)Genome: 42.0% (AC=63863, hom=15087)57 overlapping SVs

5 papers

chr6:35955193 C>T

NM_052961.4

p.V731I

c.2191G>A

STAS

Exome: 0.0% (AC=132, hom=1)Genome: 0.0% (AC=26, hom=0)57 overlapping SVs

3 papers

chr6:36012344 C>T

NM_052961.4

p.V73M

c.217G>A

Exome: 23.6% (AC=341220, hom=42025)Genome: 28.9% (AC=43917, hom=6875)57 overlapping SVs

2 papers

chr6:36019589 T>C

NM_052961.4

p.K40R

c.119A>G

Exome: 0.0% (AC=58, hom=0)Genome: 0.0% (AC=1, hom=0)56 overlapping SVs

2 papers

chr6:36012349 C>A

NM_052961.4

p.R71L

c.212G>T

Exome: 0.0% (AC=7, hom=0)Genome: n/a57 overlapping SVs

2 papers

chr6:36012271 A>G

NM_052961.4

p.L97P

c.290T>C

Sulfate_transp

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)57 overlapping SVs

2 papers

chr6:36012254 GCC>N

NM_052961.4

p.G103fs

c.307_308fs

Sulfate_transp

exact variant not in gnomAD57 overlapping SVs

2 papers

chr6:35992593 C>T

NM_052961.4

p.A237T

c.709G>A

Sulfate_transp

Exome: 0.0% (AC=2, hom=0)Genome: n/a57 overlapping SVs

2 papers

chr6:35977243 C>A

NM_052961.4

p.K378N

c.1134G>T

Sulfate_transp

exact variant not in gnomAD59 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."