Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.Y94_V95insFs

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
1 paper
NM_005629.4
p.Y94_V95insFs
c.282_283insA
Surrounding Variants
1 paper
NM_005629.4
p.V95I
c.283G>A
1 paper
NM_005629.4
p.P93S
c.277C>T
1 paper
NM_005629.4
p.I92V
c.274A>G
3 papers
NM_005629.4
p.I97_A98insFs
c.291_292ins4
2 papers
NM_005629.4
p.A98insFs
c.292_293ins4
2 papers
NM_005629.4
p.A98fs
c.292_293fs
1 paper
NM_005629.4
p.F90S
c.269T>C
1 paper
NM_005629.4
p.L99P
c.296T>C
1 paper
NM_005629.4
p.V100_G101delFs
c.298_302del5
1 paper
NM_005629.4
p.V89L
c.265G>T
6 papers
NM_005629.4
p.G88Splc
c.263-1G>C
4 papers
NM_005629.4
p.G88Splc
c.263-2A>G
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