Varaico: Literature-Extracted Genetic Variants

Gene:SLC44A4
Variant:p.N69D

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.N69D
c.205A>G
Surrounding Variants
1 paper
NM_025257.3
p.S70delFs
c.210delA
1 paper
NM_025257.3
p.T71I
c.212C>T
1 paper
NM_025257.3
p.K81*
c.241A>T
1 paper
NM_025257.3
p.G52E
c.155G>A
1 paper
NM_025257.3
p.F41S
c.122T>C
1 paper
NM_025257.3
p.D82Y
c.244G>T
1 paper
NM_025257.3
p.S98T
c.293G>C
1 paper
NM_025257.3
p.V103_A104insFs
c.309_310insA
3 papers
NM_025257.3
p.D123V
c.368A>T
1 paper
NM_025257.3
p.W125*
c.374G>A
1 paper
NM_025257.3
p.W125*
c.375G>A
1 paper
NM_025257.3
p.G137E
c.410G>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."