Varaico: Literature-Extracted Genetic Variants

Gene:SLC36A2
Variant:p.M1L

SLC36A2

59 papers

RefSeq Summary

This gene encodes a pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein family. The encoded protein primarily transports small amino acids such a...

Pfam Domains

Aa_transaa 52–463UCSCTransmembrane amino acid transporter protein

Gene Aliases

HGNC Name

solute carrier family 36 member 2

HGNC Alias Symbols

PAT2; tramdorin; TRAMD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_181776.3
p.M1L
c.1A>C
Surrounding Variants
1 paper
NM_181776.3
p.M1I
c.3G>A
1 paper
NM_181776.3
p.S22*
c.65C>A
1 paper
NM_181776.3
p.S26N
c.77G>A
1 paper
NM_181776.3
p.L30fs
c.88_89fs
1 paper
NM_181776.3
p.K33K
c.99G>A
1 paper
NM_181776.3
p.S45*
c.134C>G
1 paper
NM_181776.3
p.S45*
c.134C>A
1 paper
NM_181776.3
p.K50del1
c.148_149delCTT
4 papers
NM_181776.3
p.T55Splc
c.164+1G>A
1 paper
NM_181776.3
p.L60fs
c.178_179fs
1 paper
NM_181776.3
p.L63L
c.187C>T
1 paper
NM_181776.3
p.L63V
c.187C>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."