Varaico: Literature-Extracted Genetic Variants

Gene:SLC38A8
Variant:p.C261R

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.C261R
c.781T>C
Surrounding Variants
2 papers
NM_001080442.3
p.L267R
c.800T>G
1 paper
NM_001080442.3
p.R245R
c.735G>A
8 papers
NM_001080442.3
p.V236D
c.707T>A
3 papers
NM_001080442.3
p.E233G
c.698A>G
2 papers
NM_001080442.3
p.E233*
c.697G>T
13 papers
NM_001080442.3
p.E233K
c.697G>A
5 papers
NM_001080442.3
p.H232R
c.695A>G
5 papers
NM_001080442.3
p.C231Y
c.692G>A
1 paper
NM_001080442.3
p.Q230_C231Splc
c.691-1G>A
1 paper
NM_001080442.3
p.G269Splc
c.806-3C>G
1 paper
NM_001080442.3
p.E279delFs
c.837delT
1 paper
NM_001080442.3
p.V280fs
c.838_839fs
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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."