Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.E589_R590Splc

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.E589_R590Splc
c.1767+20C>T
Surrounding Variants
3 papers
NM_005629.4
p.E589_R590Splc
c.1767+15C>T
3 papers
NM_005629.4
p.E589_R590Splc
c.1767+32C>A
1 paper
NM_005629.4
p.G585A
c.1754G>C
1 paper
NM_005629.4
p.L577delFs
c.1731delG
1 paper
NM_005629.4
p.V572V
c.1716G>A
4 papers
NM_005629.4
p.L570_C571del2
c.1708_1712del6
2 papers
NM_005629.4
p.E589_R590Splc
c.1768-82G>C
9 papers
NM_005629.4
p.S567P
c.1699T>C
1 paper
NM_005629.4
p.L566P
c.1697T>C
1 paper
NM_005629.4
p.A565fs
c.1693_1694fs
2 papers
NM_005629.4
p.F564L
c.1692C>A
1 paper
NM_005629.4
p.A565insFs
c.1693dupG
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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."