Varaico: Literature-Extracted Genetic Variants

Gene:SLC44A5
Variant:p.L516fs

SLC44A5

70 papers

Pfam Domains

Choline_transpoaa 330–687UCSCPlasma-membrane choline transporter

Gene Aliases

HGNC Name

solute carrier family 44 member 5

HGNC Alias Symbols

MGC34032; CTL5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001130058.2
p.L516fs
c.1546_1547fs
Surrounding Variants
1 paper
NM_001130058.2
p.L516insFs
c.1546dupC
1 paper
NM_001130058.2
p.T513fs
c.1537_1538fs
1 paper
NM_001130058.2
p.R510R
c.1530A>G
1 paper
NM_001130058.2
p.R510L
c.1529G>T
2 papers
NM_001130058.2
p.R507Q
c.1520G>A
1 paper
NM_001130058.2
p.A489D
c.1466C>A
1 paper
NM_001130058.2
p.L465F
c.1393C>T
1 paper
NM_001130058.2
p.L461F
c.1383A>T
1 paper
NM_001130058.2
p.L461F
c.1383A>C
1 paper
NM_001130058.2
p.Q451*
c.1351C>T
1 paper
NM_001130058.2
p.E422G
c.1265A>G
3 papers
NM_001130058.2
p.G410E
c.1229G>A
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