Varaico: Literature-Extracted Genetic Variants

Gene:SLC44A4

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
1–12 of 73 variants
3 papers
NM_025257.3
p.D123V
c.368A>T
3 papers
NM_025257.3
p.M156V
c.466A>G
2 papers
NM_025257.3
p.P397S
c.1189C>T
1 paper
NM_025257.3
p.G2delFs
c.5delC
1 paper
NM_025257.3
p.R6L
c.17G>T
1 paper
NM_025257.3
p.D10N
c.28G>A
1 paper
NM_025257.3
p.G14Splc
c.41-1G>A
1 paper
NM_025257.3
p.N29D
c.85A>G
1 paper
NM_025257.3
p.F41S
c.122T>C
1 paper
NM_025257.3
p.G52E
c.155G>A
1 paper
NM_025257.3
p.N69D
c.205A>G
1 paper
NM_025257.3
p.S70delFs
c.210delA
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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."