Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.G561R

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
13 papers
NM_005629.4
p.G561R
c.1681G>C
Surrounding Variants
1 paper
NM_005629.4
p.M560I
c.1680G>A
1 paper
NM_005629.4
p.M560I
c.1680G>C
1 paper
NM_005629.4
p.G561A
c.1682G>C
1 paper
NM_005629.4
p.M560I
c.1680G>T
3 papers
NM_005629.4
p.W562insFs
c.1684dupT
11 papers
NM_005629.4
p.M560V
c.1678A>G
2 papers
NM_005629.4
p.W562fs
c.1684_1685fs
1 paper
NM_005629.4
p.W562*
c.1685G>A
1 paper
NM_005629.4
p.W562*
c.1686G>A
1 paper
NM_005629.4
p.F564_S568delFs
c.1690_1703del14
1 paper
NM_005629.4
p.E558D
c.1674G>C
1 paper
NM_005629.4
p.E558D
c.1674G>T
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."