Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A6
Variant:p.I100_I101delFs

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.I100_I101delFs
c.298_302del5
Surrounding Variants
1 paper
NM_003043.6
p.G91S
c.271G>A
1 paper
NM_003043.6
p.S90T
c.269G>C
1 paper
NM_003043.6
p.S90G
c.268A>G
1 paper
NM_003043.6
p.W113*
c.338G>A
1 paper
NM_003043.6
p.W113*
c.339G>A
1 paper
NM_003043.6
p.E114K
c.340G>A
2 papers
NM_003043.6
p.K115*
c.343A>T
1 paper
NM_003043.6
p.I81K
c.242T>A
7 papers
NM_003043.6
p.A78E
c.233C>A
1 paper
NM_003043.6
p.G122Splc
c.364+7A>G
1 paper
NM_003043.6
p.G124S
c.370G>A
1 paper
NM_003043.6
p.V131delFs
c.392_393delTG
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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."