Varaico: Literature-Extracted Genetic Variants

Gene:SLC38A8
Variant:p.P387P

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.P387P
c.1161A>T
Surrounding Variants
1 paper
NM_001080442.3
p.P387S
c.1159C>T
4 papers
NM_001080442.3
p.G376R
c.1126G>C
4 papers
NM_001080442.3
p.G376R
c.1126G>A
5 papers
NM_001080442.3
p.A360_L368del0
c.1078_1104del27
1 paper
NM_001080442.3
p.M365I
c.1095G>T
1 paper
NM_001080442.3
p.M365I
c.1095G>C
1 paper
NM_001080442.3
p.M365I
c.1095G>A
1 paper
NM_001080442.3
p.M361T
c.1082T>C
1 paper
NM_001080442.3
p.T358M
c.1073C>T
1 paper
NM_001080442.3
p.W345_L350delFs
c.1035_1048del14
1 paper
NM_001080442.3
p.R347W
c.1039C>T
5 papers
NM_001080442.3
p.L344fs
c.1030_1031fs
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