Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.W591*

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.W591*
c.1772G>A
Surrounding Variants
1 paper
NM_001142805.2
p.R580H
c.1739G>A
1 paper
NM_005629.4
p.E589_R590Splc
c.1768-1G>A
2 papers
NM_005629.4
p.H593R
c.1778A>G
4 papers
NM_005629.4
p.E589_R590Splc
c.1768-3C>T
1 paper
NM_005629.4
p.P597T
c.1789C>A
1 paper
NM_005629.4
p.P597S
c.1789C>T
3 papers
NM_005629.4
p.A611T
c.1831G>A
1 paper
NM_005629.4
p.V613I
c.1837G>A
1 paper
NM_005629.4
p.L616insFs
c.1846dupC
1 paper
NM_005629.4
p.L616fs
c.1846_1847fs
1 paper
NM_005629.4
p.T618A
c.1852A>G
1 paper
NM_005629.4
p.T620A
c.1858A>G
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