Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.P390L

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
15 papers
NM_005629.4
p.P390L
c.1169C>T
Surrounding Variants
1 paper
NM_001142805.2
p.P380Q
c.1139C>A
11 papers
NM_005629.4
p.R391W
c.1171C>T
6 papers
NM_005629.4
p.Y389C
c.1166A>G
1 paper
NM_005629.4
p.A392_V393del2
c.1174_1178del6
1 paper
NM_005629.4
p.A388A
c.1164C>T
5 papers
NM_005629.4
p.A388T
c.1162G>A
1 paper
NM_005629.4
p.I387I
c.1161C>T
1 paper
NM_005629.4
p.I387delFs
c.1161delC
1 paper
NM_005629.4
p.I387L
c.1159A>C
6 papers
NM_005629.4
p.T394K
c.1181C>A
1 paper
NM_005629.4
p.L395L
c.1185G>A
2 papers
NM_005629.4
p.L384fs
c.1150_1151fs
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