Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A15
Variant:p.L472P

SLC6A15

50 papers

RefSeq Summary

This gene encodes a member of the solute carrier family 6 protein family which transports neutral amino acids. The encoded protein is thought to play a role in neuronal amino acid transport (PMID: 161...

Pfam Domains

SNFaa 61–644UCSCSodium:neurotransmitter symporter family

Gene Aliases

HGNC Name

solute carrier family 6 member 15

HGNC Alias Symbols

hv7-3; NTT73; FLJ10316; V7-3; SBAT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_182767.6
p.L472P
c.1415T>C
Surrounding Variants
1 paper
NM_182767.6
p.L472delFs
c.1414_1415delAG
1 paper
NM_182767.6
p.L472F
c.1414C>T
1 paper
NM_182767.6
p.I496M
c.1488T>G
1 paper
NM_182767.6
p.T498T
c.1494T>G
1 paper
NM_182767.6
p.A442G
c.1325C>G
2 papers
NM_182767.6
p.L421P
c.1262T>C
3 papers
NM_182767.6
p.A400V
c.1199C>T
1 paper
NM_182767.6
p.Q370Splc
c.1109+8T>C
1 paper
NM_182767.6
p.F343V
c.1027T>G
1 paper
NM_182767.6
p.N329Y
c.985A>T
1 paper
NM_182767.6
p.E291K
c.871G>A
2 papers
NM_182767.6
p.I500T
c.1499T>C
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