Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.T550S

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
5 papers
NM_005629.4
p.T550S
c.1648A>T
Surrounding Variants
5 papers
NM_005629.4
p.T550S
c.1649C>G
1 paper
NM_005629.4
p.N549fs
c.1645_1646fs
1 paper
NM_005629.4
p.Y551Y
c.1653C>T
1 paper
NM_005629.4
p.N548fs
c.1642_1643fs
5 papers
NM_005629.4
p.V552L
c.1654G>C
5 papers
NM_005629.4
p.V552L
c.1654G>T
1 paper
NM_005629.4
p.Y547_N548del1
c.1640_1642delACA
1 paper
NM_005629.4
p.N548_T550delFs
c.1642_1649del8
1 paper
NM_005629.4
p.Y553*
c.1659C>A
1 paper
NM_005629.4
p.Y553*
c.1659C>G
20 papers
NM_005629.4
p.P554L
c.1661C>T
3 papers
NM_005629.4
p.P554P
c.1662G>A
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