Varaico: Literature-Extracted Genetic Variants

Gene:SLC38A8
Variant:p.A166_E169del0

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.A166_E169del0
c.498_506del9
Surrounding Variants
1 paper
NM_001080442.3
p.A171T
c.511G>A
4 papers
NM_001080442.3
p.L164delFs
c.490_491delAG
5 papers
NM_001080442.3
p.L164fs
c.490_491fs
6 papers
NM_001080442.3
p.T176R
c.527C>G
1 paper
NM_001080442.3
p.T176K
c.527C>A
2 papers
NM_001080442.3
p.V158M
c.472G>A
2 papers
NM_001080442.3
p.R150C
c.448C>T
3 papers
NM_001080442.3
p.Q149*
c.445C>T
1 paper
NM_001080442.3
p.D148H
c.442G>C
4 papers
NM_001080442.3
p.W145*
c.435G>A
4 papers
NM_001080442.3
p.W145*
c.434G>A
1 paper
NM_001080442.3
p.P142P
c.426G>A
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