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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC16A5

SLC16A5

31 papers

RefSeq Summary

This gene encodes a member of the monocarboxylate transporter family and the major facilitator superfamily. The encoded protein is localized to the cell membrane and acts as a proton-linked transporte...

Pfam Domains

MFS_1aa 14–298UCSCMajor Facilitator Superfamily

MFS_1aa 237–487UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 16 member 5

HGNC Alias Symbols

MCT5; MCT6

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 33 variants

1 paper

chr17:75093661 G>A

NM_004695.4

p.D9N

c.25G>A

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=3, hom=0)7 overlapping SVs

1 paper

chr17:75093713 T>C

NM_004695.4

p.L26P

c.77T>C

MFS_1

Exome: n/aGenome: 0.0% (AC=1, hom=0)7 overlapping SVs

1 paper

chr17:75093740 G>A

NM_004695.4

p.G35D

c.104G>A

MFS_1

exact variant not in gnomAD7 overlapping SVs

1 paper

chr17:75093757 T>A

NM_004695.4

p.L41M

c.121T>A

MFS_1

Exome: 0.0% (AC=1, hom=0)Genome: n/a7 overlapping SVs

1 paper

chr17:75093757 T>C

NM_004695.4

p.L41L

c.121T>C

MFS_1

Exome: 72.6% (AC=1061605, hom=389616)Genome: 72.3% (AC=110016, hom=40272)7 overlapping SVs

1 paper

chr17:75093791 C>A

NM_004695.4

p.T52N

c.155C>A

MFS_1

exact variant not in gnomAD7 overlapping SVs

1 paper

chr17:75093815 C>T

NM_004695.4

p.T60M

c.179C>T

MFS_1

Exome: 0.0% (AC=101, hom=0)Genome: 0.0% (AC=11, hom=0)7 overlapping SVs

1 paper

chr17:75098070 G>A

NM_004695.4

p.G78S

c.232G>A

MFS_1

Exome: 0.0% (AC=279, hom=0)Genome: 0.0% (AC=20, hom=0)11 overlapping SVs

1 paper

chr17:75098092 T>TG

NM_004695.4

p.L85insFs

c.254_255insG

MFS_1

Exome: 0.0% (AC=2, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr17:75098107 C>T

NM_004695.4

p.A90V

c.269C>T

MFS_1

Exome: 0.0% (AC=0, hom=0)Genome: n/a11 overlapping SVs

1 paper

chr17:75098174 C>A

NM_004695.4

p.F112L

c.336C>A

MFS_1

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)12 overlapping SVs

1 paper

chr17:75100043 C>G

NM_004695.4

p.T127R

c.380C>G

MFS_1

exact variant not in gnomAD8 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."