Varaico: Literature-Extracted Genetic Variants

Gene:SLC38A8
Variant:p.G332insFs

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
7 papers
NM_001080442.3
p.G332insFs
c.995dupG
Surrounding Variants
6 papers
NM_001080442.3
p.W333fs
c.997_998fs
4 papers
NM_001080442.3
p.G334delFs
c.1002delC
5 papers
NM_001080442.3
p.S336fs
c.1006_1007fs
1 paper
NM_001080442.3
p.S336T
c.1007G>C
1 paper
NM_001080442.3
p.S336S
c.1008C>T
1 paper
NM_001080442.3
p.S342L
c.1025C>T
1 paper
NM_001080442.3
p.S342*
c.1025C>G
1 paper
NM_001080442.3
p.S342*
c.1025C>A
1 paper
NM_001080442.3
p.G343W
c.1027G>T
1 paper
NM_001080442.3
p.G343R
c.1027G>C
1 paper
NM_001080442.3
p.G343R
c.1027G>A
6 papers
NM_001080442.3
p.Q322*
c.964C>T
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