Varaico: Literature-Extracted Genetic Variants

Gene:SLC36A1
Variant:p.V378M

SLC36A1

74 papers

RefSeq Summary

This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene...

Pfam Domains

Aa_transaa 45–457UCSCTransmembrane amino acid transporter protein

Gene Aliases

HGNC Name

solute carrier family 36 member 1

HGNC Alias Symbols

LYAAT-1; PAT1; TRAMD3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_078483.4
p.V378M
c.1132G>A
Surrounding Variants
1 paper
NM_078483.4
p.R379H
c.1136G>A
1 paper
NM_078483.4
p.E368D
c.1104G>C
1 paper
NM_078483.4
p.E368D
c.1104G>T
1 paper
NM_078483.4
p.A366V
c.1097C>T
1 paper
NM_078483.4
p.R365Q
c.1094G>A
1 paper
NM_078483.4
p.Y352Y
c.1056C>T
1 paper
NM_078483.4
p.A348T
c.1042G>A
1 paper
NM_078483.4
p.I341L
c.1021A>C
1 paper
NM_078483.4
p.S340C
c.1019C>G
1 paper
NM_078483.4
p.Q333L
c.998A>T
2 papers
NM_078483.4
p.Q333*
c.997C>T
1 paper
NM_078483.4
p.C329S
c.986G>C
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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."