Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.G499Splc

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.G499Splc
c.1495+38C>T
Surrounding Variants
2 papers
NM_005629.4
p.G499Splc
c.1496-18C>T
2 papers
NM_005629.4
p.G499Splc
c.1496-17G>A
8 papers
NM_005629.4
p.G499Splc
c.1495+5G>C
2 papers
NM_005629.4
p.G499Splc
c.1495+2T>G
2 papers
NM_005629.4
p.G499V
c.1496G>T
4 papers
NM_005629.4
p.Y498Y
c.1494C>T
2 papers
NM_005629.4
p.G499Splc
c.1496-8C>T
1 paper
NM_005629.4
p.Y498fs
c.1492_1493fs
1 paper
NM_005629.4
p.G499Splc
c.1496-7G>A
1 paper
NM_005629.4
p.G499Splc
c.1496-5C>T
1 paper
NM_005629.4
p.W496*
c.1488G>A
1 paper
NM_005629.4
p.G499_A500del1
c.1496_1498delGAG
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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."