Varaico: Literature-Extracted Genetic Variants

Gene:SLC36A2
Variant:p.I241V

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.I241V
c.721A>G
Surrounding Variants
1 paper
NM_181776.3
p.R219Q
c.656G>A
1 paper
NM_181776.3
p.M205V
c.613A>G
1 paper
NM_181776.3
p.Y204C
c.611A>G
1 paper
NM_181776.3
p.R202*
c.604C>T
2 papers
NM_181776.3
p.T196I
c.587C>T
1 paper
NM_181776.3
p.C187G
c.559T>G
1 paper
NM_181776.3
p.N185_C187Fs
c.554_559delinsTGTGFs
1 paper
NM_181776.3
p.S182T
c.545G>C
2 papers
NM_181776.3
p.V150M
c.448G>A
1 paper
NM_181776.3
p.Y123insFs
c.368_369ins23
1 paper
NM_181776.3
p.Y123*
c.369T>G
1 paper
NM_181776.3
p.Y123*
c.369T>A
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