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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC18B1

SLC18B1

34 papers

RefSeq Summary

This gene encodes a protein, which has high sequence similarity to rat, xenopus and zebrafish proteins. The protein function is unknown. [provided by RefSeq, Jul 2008].

Pfam Domains

MFS_1aa 40–366UCSCMajor Facilitator Superfamily

MFS_1aa 240–453UCSCMajor Facilitator Superfamily

Gene Aliases

HGNC Name

solute carrier family 18 member B1

HGNC Previous Symbol

C6orf192

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 27 variants

3 papers

chr6:132797077 A>G

NM_052831.3

p.S30P

c.88T>C

Exome: 3.3% (AC=48418, hom=1149)Genome: 3.0% (AC=4641, hom=139)73 overlapping SVs

2 papers

chr6:132787441 G>A

NM_052831.3

p.T165M

c.494C>T

MFS_1

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=4, hom=0)75 overlapping SVs

2 papers

chr6:132783948 T>C

NM_052831.3

p.I215V

c.643A>G

MFS_1

Exome: 0.0% (AC=446, hom=1)Genome: 0.0% (AC=60, hom=0)73 overlapping SVs

2 papers

chr6:132776404 C>A

NM_052831.3

p.G274V

c.821G>T

MFS_1

Exome: 0.2% (AC=2461, hom=4)Genome: 0.1% (AC=144, hom=0)72 overlapping SVs

1 paper

chr6:132798429 G>T

NM_052831.3

p.P10T

c.28C>A

Exome: 0.0% (AC=127, hom=1)Genome: 0.0% (AC=33, hom=1)75 overlapping SVs

1 paper

chr6:132798425 C>A

NM_052831.3

p.R11L

c.32G>T

Exome: 2.8% (AC=38884, hom=759)Genome: 4.8% (AC=7288, hom=327)75 overlapping SVs

1 paper

chr6:132797105 T>C

NM_052831.3

p.G20G

c.60A>G

exact variant not in gnomAD73 overlapping SVs

1 paper

chr6:132797051 T>TN

NM_052831.3

p.I38fs

c.112_113fs

exact variant not in gnomAD73 overlapping SVs

1 paper

chr6:132790271 G>A

NM_052831.3

p.A62V

c.185C>T

MFS_1

Exome: 0.0% (AC=14, hom=0)Genome: 0.0% (AC=2, hom=0)75 overlapping SVs

1 paper

chr6:132789776 G>A

NM_052831.3

p.T114I

c.341C>T

MFS_1

Exome: 0.0% (AC=34, hom=0)Genome: n/a75 overlapping SVs

1 paper

chr6:132787517 C>T

NM_052831.3

p.D140N

c.418G>A

MFS_1

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)75 overlapping SVs

1 paper

chr6:132787462 G>A

NM_052831.3

p.A158V

c.473C>T

MFS_1

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=1, hom=0)75 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."