Varaico: Literature-Extracted Genetic Variants

Gene:SLC44A4
Variant:p.N409D

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.N409D
c.1225A>G
Surrounding Variants
1 paper
NM_025257.3
p.T411_A412insA
c.1231_1235ins3
1 paper
NM_025257.3
p.G398C
c.1192G>T
2 papers
NM_025257.3
p.P397S
c.1189C>T
1 paper
NM_025257.3
p.N393D
c.1177A>G
1 paper
NM_025257.3
p.A391P
c.1171G>C
1 paper
NM_025257.3
p.V388M
c.1162G>A
1 paper
NM_025257.3
p.P385P
c.1155C>T
1 paper
NM_025257.3
p.G349R
c.1045G>C
1 paper
NM_025257.3
p.A347T
c.1039G>A
1 paper
NM_025257.3
p.R333W
c.997C>T
1 paper
NM_025257.3
p.W309_L310insA
c.925_929ins3
1 paper
NM_025257.3
p.Y302C
c.905A>G
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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."