Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A6
Variant:p.S45A

SLC6A6

84 papers

RefSeq Summary

This gene encodes a multi-pass membrane protein that is a member of a family of sodium and chloride-ion dependent transporters. The encoded protein transports taurine and beta-alanine. There is a pseu...

Pfam Domains

SNFaa 142–669UCSCSodium:neurotransmitter symporter family

Gene Aliases

HGNC Name

solute carrier family 6 member 6

HGNC Alias Symbol

TAUT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003043.6
p.S45A
c.133T>G
Surrounding Variants
1 paper
NM_003043.6
p.G57insFs
c.169_170ins4
1 paper
NM_003043.6
p.G57A
c.170G>C
2 papers
NM_003043.6
p.F58I
c.172T>A
1 paper
NM_003043.6
p.F58Y
c.173T>A
1 paper
NM_003043.6
p.G60A
c.179G>C
2 papers
NM_003043.6
p.G62A
c.185G>C
1 paper
NM_001134367.3
p.Y170*
c.510C>A
1 paper
NM_001134367.3
p.Y170*
c.510C>G
1 paper
NM_003043.6
p.K19K
c.57G>A
1 paper
NM_003043.6
p.L18V
c.52C>G
1 paper
NM_003043.6
p.I17M
c.51C>G
1 paper
NM_003043.6
p.G76_G77delFs
c.228_229delAG
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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."