Varaico: Literature-Extracted Genetic Variants

Gene:SLC38A8
Variant:p.D283A

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
14 papers
NM_001080442.3
p.D283A
c.848A>C
Surrounding Variants
6 papers
NM_001080442.3
p.A282_D283del1
c.845_847delCAG
5 papers
NM_001080442.3
p.L285F
c.855G>T
5 papers
NM_001080442.3
p.L285F
c.855G>C
1 paper
NM_001080442.3
p.V280fs
c.838_839fs
1 paper
NM_001080442.3
p.M286delFs
c.856delT
1 paper
NM_001080442.3
p.E279delFs
c.837delT
1 paper
NM_001080442.3
p.G269Splc
c.806-3C>G
1 paper
NM_001080442.3
p.R299W
c.895C>T
2 papers
NM_001080442.3
p.S305P
c.913T>C
1 paper
NM_001080442.3
p.S305T
c.913T>A
1 paper
NM_001080442.3
p.S305F
c.914C>T
5 papers
NM_001080442.3
p.T308S
c.922A>T
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