Varaico: Literature-Extracted Genetic Variants

Gene:SLC36A2
Variant:p.R376C

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
2 papers
NM_181776.3
p.R376C
c.1126C>T
Surrounding Variants
1 paper
NM_181776.3
p.A369P
c.1105G>C
1 paper
NM_181776.3
p.L387L
c.1161C>T
1 paper
NM_181776.3
p.V360I
c.1078G>A
1 paper
NM_181776.3
p.W337*
c.1010G>A
2 papers
NM_181776.3
p.R320W
c.958C>T
1 paper
NM_181776.3
p.G317A
c.950G>C
1 paper
NM_181776.3
p.S304F
c.911C>T
1 paper
NM_181776.3
p.V281_V282Splc
c.844-13G>T
1 paper
NM_181776.3
p.S408F
c.1223C>T
1 paper
NM_181776.3
p.A419S
c.1255G>T
1 paper
NM_181776.3
p.S437I
c.1310G>T
1 paper
NM_181776.3
p.A445V
c.1334C>T
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