Varaico: Literature-Extracted Genetic Variants

Gene:SLC38A8
Variant:p.E2_G3delFs

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
5 papers
NM_001080442.3
p.E2_G3delFs
c.6_9del4
Surrounding Variants
1 paper
NM_001080442.3
p.Q4fs
c.10_11fs
1 paper
NM_001080442.3
p.Q4delFs
c.11delT
1 paper
NM_001080442.3
p.M1insFs
c.3dupG
6 papers
NM_001080442.3
p.E2fs
c.4_5fs
1 paper
NM_001080442.3
p.P6S
c.16C>T
1 paper
NM_001080442.3
p.M1R
c.2T>G
5 papers
NM_001080442.3
p.P6_R9del4
c.16_26del12
1 paper
NM_001080442.3
p.E13G
c.38A>G
1 paper
NM_001080442.3
p.K14fs
c.40_41fs
1 paper
NM_001080442.3
p.H16P
c.47A>C
1 paper
NM_001080442.3
p.L24V
c.70C>G
1 paper
NM_001080442.3
p.L24Q
c.71T>A
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