Varaico: Literature-Extracted Genetic Variants

Gene:SLC44A4
Variant:p.R281Q

SLC44A4

61 papers

RefSeq Summary

The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysoso...

Pfam Domains

Choline_transpoaa 314–675UCSCPlasma-membrane choline transporter

Gene Aliases

HGNC Name

solute carrier family 44 member 4

HGNC Previous Symbol

C6orf29

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025257.3
p.R281Q
c.842G>A
Surrounding Variants
1 paper
NM_025257.3
p.E278A
c.833A>C
1 paper
NM_025257.3
p.A288V
c.863C>T
1 paper
NM_025257.3
p.N298D
c.892A>G
1 paper
NM_025257.3
p.Y302C
c.905A>G
1 paper
NM_025257.3
p.W309_L310insA
c.925_929ins3
1 paper
NM_025257.3
p.V241I
c.721G>A
1 paper
NM_025257.3
p.R333W
c.997C>T
1 paper
NM_025257.3
p.I232fs
c.694_695fs
1 paper
NM_025257.3
p.N197D
c.589A>G
1 paper
NM_025257.3
p.I195T
c.584T>C
1 paper
NM_025257.3
p.P190fs
c.568_569fs
1 paper
NM_025257.3
p.G179E
c.536G>A
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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."