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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CMTM6

Variant:p.T91A

CMTM6

20 papers

RefSeq Summary

This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor ge...

Pfam Domains

MARVELaa 34–154UCSCMembrane-associating domain

Gene Aliases

HGNC Name

CKLF like MARVEL transmembrane domain containing 6

HGNC Previous Symbol

CKLFSF6

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

4 papers

chr3:32491754 T>C

NM_017801.3

p.T91A

c.271A>G

MARVEL

Exome: 2.3% (AC=32793, hom=463)Genome: 1.6% (AC=2390, hom=23)58 overlapping SVs

Surrounding Variants

1 paper

chr3:32491824 T>G

NM_017801.3

p.G67G

c.201A>C

MARVEL

exact variant not in gnomAD58 overlapping SVs

1 paper

chr3:32491861 C>A

NM_017801.3

p.C55F

c.164G>T

MARVEL

exact variant not in gnomAD58 overlapping SVs

1 paper

chr3:32491873 A>C

NM_017801.3

p.L51R

c.152T>G

MARVEL

exact variant not in gnomAD58 overlapping SVs

1 paper

chr3:32487968 A>G

NM_017801.3

p.H128H

c.384T>C

MARVEL

Exome: 0.0% (AC=410, hom=6)Genome: 0.3% (AC=419, hom=1)58 overlapping SVs

1 paper

chr3:32487952 C>G

NM_017801.3

p.E134Q

c.400G>C

MARVEL

exact variant not in gnomAD58 overlapping SVs

1 paper

chr3:32487947 A>C

NM_017801.3

p.I135M

c.405T>G

MARVEL

Exome: 0.0% (AC=59, hom=1)Genome: 0.0% (AC=5, hom=0)58 overlapping SVs

1 paper

chr3:32484028 C>T

NM_017801.3

p.E162K

c.484G>A

Exome: 0.0% (AC=1, hom=0)Genome: n/a57 overlapping SVs

1 paper

chr3:32483967 T>A

NM_017801.3

p.N182I

c.545A>T

exact variant not in gnomAD57 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."