Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.G381Splc

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.G381Splc
c.1142-122C>T
Surrounding Variants
2 papers
NM_005629.4
p.G381Splc
c.1142-130C>T
1 paper
NM_005629.4
p.G381Splc
c.1142-100G>A
1 paper
NM_005629.4
p.G381Splc
c.1142-98C>A
2 papers
NM_005629.4
p.G381Splc
c.1142-69G>A
3 papers
NM_005629.4
p.G381Splc
c.1142-35G>A
1 paper
NM_005629.4
p.G381Splc
c.1142-19G>A
4 papers
NM_005629.4
p.G381Splc
c.1141+87A>G
5 papers
NM_005629.4
p.P382_L384insFs
c.1146_1150dup5
13 papers
NM_005629.4
p.P382L
c.1145C>T
1 paper
NM_005629.4
p.G383C
c.1147G>T
2 papers
NM_005629.4
p.L384fs
c.1150_1151fs
1 paper
NM_005629.4
p.I387L
c.1159A>C
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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."