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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CMTM4

CMTM4

10 papers

RefSeq Summary

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

Pfam Domains

MARVELaa 49–170UCSCMembrane-associating domain

Gene Aliases

HGNC Name

CKLF like MARVEL transmembrane domain containing 4

HGNC Previous Symbol

CKLFSF4

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr16:66636405 T>G

NM_181521.3

p.T121T

c.363A>C

MARVEL

Exome: 0.1% (AC=1012, hom=11)Genome: 0.1% (AC=126, hom=2)10 overlapping SVs

1 paper

chr16:66696426 C>T

NM_181521.3

p.V34M

c.100G>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr16:66696402 C>A

NM_181521.3

p.G42C

c.124G>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a9 overlapping SVs

1 paper

chr16:66623425 G>A

NM_181521.3

p.A147A

c.441C>T

MARVEL

Exome: 0.0% (AC=56, hom=0)Genome: 0.0% (AC=3, hom=0)10 overlapping SVs

1 paper

chr16:66622140 T>G

NM_181521.3

p.Q182P

c.545A>C

exact variant not in gnomAD9 overlapping SVs

1 paper

chr16:66622061 C>T

NM_181521.3

p.T208T

c.624G>A

Exome: 0.0% (AC=110, hom=0)Genome: 0.0% (AC=19, hom=0)9 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."