Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8

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
1–12 of 581 variants
29 papers
NM_005629.4
p.F408del1
c.1222_1223delTTC
26 papers
NM_005629.4
p.P544L
c.1631C>T
24 papers
NM_005629.4
p.F107del1
c.319_320delTTC
20 papers
NM_005629.4
p.P554L
c.1661C>T
18 papers
NM_005629.4
p.N336del1
c.1006_1008delAAC
18 papers
NM_005629.4
p.G381R
c.1141G>A
18 papers
NM_005629.4
p.G381R
c.1141G>C
16 papers
NM_005629.4
p.R514*
c.1540C>T
15 papers
NM_005629.4
p.P390L
c.1169C>T
14 papers
NM_005629.4
p.C337W
c.1011C>G
14 papers
NM_005629.4
p.G356V
c.1067G>T
14 papers
NM_005629.4
p.G424D
c.1271G>A
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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."