Varaico: Literature-Extracted Genetic Variants

Gene:SLC38A8
Variant:p.F227Y

SLC38A8

104 papers

RefSeq Summary

This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein ...

Pfam Domains

Aa_transaa 22–431UCSCTransmembrane amino acid transporter protein

Gene Aliases

HGNC Name

solute carrier family 38 member 8

HGNC Alias Symbol

SNAT8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080442.3
p.F227Y
c.680T>A
Surrounding Variants
6 papers
NM_001080442.3
p.G228R
c.682G>C
6 papers
NM_001080442.3
p.G228R
c.682G>A
1 paper
NM_001080442.3
p.C226R
c.676T>C
1 paper
NM_001080442.3
p.Q230R
c.689A>G
1 paper
NM_001080442.3
p.S220T
c.659G>C
4 papers
NM_001080442.3
p.W215L
c.644G>T
1 paper
NM_001080442.3
p.S211Splc
c.633-21C>A
1 paper
NM_001080442.3
p.S211Splc
c.632+4A>T
3 papers
NM_001080442.3
p.S211Splc
c.632+2T>G
4 papers
NM_001080442.3
p.S211Splc
c.632+1G>A
1 paper
NM_001080442.3
p.P208H
c.623C>A
1 paper
NM_001080442.3
p.V203M
c.607G>A
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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."