Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.F564L

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
2 papers
NM_005629.4
p.F564L
c.1692C>G
Surrounding Variants
2 papers
NM_005629.4
p.F564L
c.1692C>A
1 paper
NM_005629.4
p.A565insFs
c.1693dupG
1 paper
NM_005629.4
p.F564F
c.1692C>T
1 paper
NM_005629.4
p.A565fs
c.1693_1694fs
2 papers
NM_005629.4
p.F564L
c.1690T>C
1 paper
NM_005629.4
p.F564fs
c.1690_1691fs
1 paper
NM_005629.4
p.F564_S568delFs
c.1690_1703del14
1 paper
NM_005629.4
p.L566P
c.1697T>C
1 paper
NM_005629.4
p.W562*
c.1686G>A
1 paper
NM_005629.4
p.W562*
c.1685G>A
9 papers
NM_005629.4
p.S567P
c.1699T>C
2 papers
NM_005629.4
p.W562fs
c.1684_1685fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."