Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A7
Variant:p.W384*

SLC6A7

203 papers

RefSeq Summary

This gene is a member of the gamma-aminobutyric acid (GABA) neurotransmitter gene family and encodes a high-affinity mammalian brain L-proline transporter protein. This transporter protein differs fro...

Pfam Domains

SNFaa 37–561UCSCSodium:neurotransmitter symporter family

Gene Aliases

HGNC Name

solute carrier family 6 member 7

HGNC Alias Symbol

PROT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014228.5
p.W384*
c.1152G>A
Surrounding Variants
1 paper
NM_014228.5
p.W384*
c.1151G>A
1 paper
NM_014228.5
p.P382H
c.1145C>A
1 paper
NM_014228.5
p.P379_L380insFs
c.1137_1138insC
1 paper
NM_014228.5
p.P379S
c.1135C>T
1 paper
NM_014228.5
p.L392_L393del2
c.1174_1178del6
1 paper
NM_014228.5
p.T376I
c.1127C>T
2 papers
NM_014228.5
p.G396S
c.1186G>A
1 paper
NM_014228.5
p.G396_L397insFs
c.1188_1189insT
1 paper
NM_014228.5
p.L397delFs
c.1189_1190delCT
1 paper
NM_014228.5
p.L397insFs
c.1189_1190insT
1 paper
NM_014228.5
p.V370G
c.1109T>G
1 paper
NM_014228.5
p.V369L
c.1105G>C
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