Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A6
Variant:p.F392fs

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
2 papers
NM_003043.6
p.F392fs
c.1174_1175fs
Surrounding Variants
1 paper
NM_003043.6
p.F392_I393del2
c.1174_1178del6
1 paper
NM_003043.6
p.W387*
c.1161G>A
1 paper
NM_003043.6
p.W387*
c.1160G>A
10 papers
NM_003043.6
p.G399V
c.1196G>T
1 paper
NM_003043.6
p.A370A
c.1110C>T
1 paper
NM_003043.6
p.A363S
c.1087G>T
1 paper
NM_003043.6
p.D361G
c.1082A>G
1 paper
NM_003043.6
p.I347del1
c.1039_1040delATC
2 papers
NM_003043.6
p.A343T
c.1027G>A
1 paper
NM_001134367.3
p.C432Y
c.1295G>A
1 paper
NM_003043.6
p.S322A
c.964T>G
1 paper
NM_003043.6
p.Y320N
c.958T>A
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