Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.G132Splc

SLC6A8

423 papers

RefSeq Summary

The protein encoded by this gene is a plasma membrane protein whose function is to transport creatine into and out of cells. Defects in this gene can result in X-linked creatine deficiency syndrome. M...

Pfam Domains

SNFaa 52–583UCSCSodium:neurotransmitter symporter family

Gene Aliases

HGNC Name

solute carrier family 6 member 8

HGNC Alias Symbols

CRTR; CT1; CRT; CRT-1; CRT1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_005629.4
p.G132Splc
c.394+88G>A
Surrounding Variants
3 papers
NM_005629.4
p.G132Splc
c.394+88G>C
2 papers
NM_005629.4
p.G132Splc
c.394+72C>A
2 papers
NM_005629.4
p.G132Splc
c.394+108G>A
2 papers
NM_005629.4
p.G132Splc
c.394+66C>A
2 papers
NM_005629.4
p.G132Splc
c.394+52C>T
8 papers
NM_005629.4
p.G132V
c.395G>T
1 paper
NM_005629.4
p.K131*
c.391A>T
1 paper
NM_005629.4
p.K131delFs
c.392_393delAA
1 paper
NM_005629.4
p.W124*
c.372G>A
1 paper
NM_005629.4
p.N125insFs
c.373dupA
1 paper
NM_005629.4
p.W124S
c.371G>C
1 paper
NM_005629.4
p.W124R
c.370T>A
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