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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC16A8

SLC16A8

55 papers

RefSeq Summary

SLC16A8 is a member of a family of proton-coupled monocarboxylate transporters that mediate lactate transport across cell membranes (Yoon et al., 1999 [PubMed 10493836]).[supplied by OMIM, Apr 2010].

Pfam Domains

MFS_1aa 22–396UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 16 member 8

HGNC Alias Symbols

MCT3; REMP

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 103 variants

9 papers

chr22:38082659 C>G

NM_013356.3

p.G72Splc

c.214+1G>C

MFS_1

Exome: 0.8% (AC=11256, hom=59)Genome: 0.5% (AC=823, hom=2)6 overlapping SVs

3 papers

chr22:38082797 A>G

NM_013356.3

p.F26S

c.77T>C

MFS_1

Exome: 0.2% (AC=3009, hom=22)Genome: 0.2% (AC=242, hom=3)6 overlapping SVs

2 papers

chr22:38081551 G>A

NM_013356.3

p.L163F

c.487C>T

MFS_1

Exome: 0.2% (AC=2253, hom=45)Genome: 0.2% (AC=346, hom=5)5 overlapping SVs

2 papers

chr22:38081335 T>A

NM_013356.3

p.R235W

c.703A>T

MFS_1

Exome: 48.8% (AC=649503, hom=159272)Genome: 46.2% (AC=70109, hom=16379)5 overlapping SVs

2 papers

chr22:38081331 AC>A

NM_013356.3

p.V236delFs

c.706delC

MFS_1

Exome: 0.0% (AC=60, hom=0)Genome: 0.0% (AC=2, hom=0)5 overlapping SVs

2 papers

chr22:38081007 C>T

NM_013356.3

p.G344D

c.1031G>A

MFS_1

Exome: 0.0% (AC=445, hom=0)Genome: 0.0% (AC=47, hom=1)5 overlapping SVs

1 paper

chr22:38082869 C>T

NM_013356.3

p.G2D

c.5G>A

exact variant not in gnomAD5 overlapping SVs

1 paper

chr22:38082854 C>G

NM_013356.3

p.R7P

c.20G>C

Exome: 0.0% (AC=173, hom=0)Genome: 0.0% (AC=9, hom=0)5 overlapping SVs

1 paper

chr22:38082840 G>A

NM_013356.3

p.P12S

c.34C>T

Exome: 0.0% (AC=86, hom=0)Genome: 0.0% (AC=13, hom=0)5 overlapping SVs

1 paper

chr22:38082839 G>T

NM_013356.3

p.P12H

c.35C>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a5 overlapping SVs

1 paper

chr22:38082786 C>T

NM_013356.3

p.G30S

c.88G>A

MFS_1

Exome: 0.1% (AC=902, hom=1)Genome: 0.1% (AC=78, hom=0)6 overlapping SVs

1 paper

chr22:38082781 G>C

NM_013356.3

p.F31L

c.93C>G

MFS_1

Exome: 0.0% (AC=2, hom=0)Genome: n/a6 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."