Varaico: Literature-Extracted Genetic Variants

Gene:MELTF
Variant:p.L18V

MELTF

62 papers

RefSeq Summary

The protein encoded by this gene is a cell-surface glycoprotein found on melanoma cells. The protein shares sequence similarity and iron-binding properties with members of the transferrin superfamily....

Pfam Domains

Transferrinaa 23–357UCSCTransferrin
Transferrinaa 366–706UCSCTransferrin

Gene Aliases

HGNC Name

melanotransferrin

HGNC Previous Symbol

MFI2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005929.6
p.L18V
c.52C>G
Surrounding Variants
1 paper
NM_005929.6
p.V64I
c.190G>A
1 paper
NM_005929.6
p.A109T
c.325G>A
1 paper
NM_005929.6
p.V127M
c.379G>A
2 papers
NM_005929.6
p.V127G
c.380T>G
1 paper
NM_005929.6
p.V144_G145del0
c.430_435del6
2 papers
NM_005929.6
p.M156V
c.466A>G
1 paper
NM_005929.6
p.F168L
c.502T>C
1 paper
NM_005929.6
p.F168L
c.504T>G
1 paper
NM_005929.6
p.F168L
c.504T>A
2 papers
NM_005929.6
p.R190K
c.569G>A
1 paper
NM_005929.6
p.K228K
c.684G>A
1 paper
NM_005929.6
p.T236A
c.706A>G
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