Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.Q418_F419Splc

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
5 papers
NM_005629.4
p.Q418_F419Splc
c.1254+1G>A
Surrounding Variants
2 papers
NM_005629.4
p.S417R
c.1251C>A
2 papers
NM_005629.4
p.S417R
c.1251C>G
2 papers
NM_005629.4
p.S417R
c.1249A>C
1 paper
NM_005629.4
p.L415fs
c.1243_1244fs
1 paper
NM_005629.4
p.L415_D416delFs
c.1244_1248del5
2 papers
NM_005629.4
p.G414del1
c.1240_1241delGGT
2 papers
NM_005629.4
p.L412M
c.1234C>A
1 paper
NM_005629.4
p.L412L
c.1234C>T
1 paper
NM_005629.4
p.L412_D416delFs
c.1235_1248del14
2 papers
NM_005629.4
p.L411S
c.1232T>C
3 papers
NM_005629.4
p.Q418_F419Splc
c.1254+28C>T
2 papers
NM_005629.4
p.Q418_F419Splc
c.1254+39G>T
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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."