Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.A323P

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.A323P
c.967G>C
Surrounding Variants
4 papers
NM_005629.4
p.G322W
c.964G>T
4 papers
NM_005629.4
p.T325delFs
c.974_975delCA
2 papers
NM_005629.4
p.T325fs
c.973_974fs
5 papers
NM_005629.4
p.L321_A323del3
c.961_968del9
1 paper
NM_005629.4
p.G320S
c.958G>A
1 paper
NM_005629.4
p.A318G
c.953C>G
2 papers
NM_005629.4
p.A318T
c.952G>A
4 papers
NM_005629.4
p.Y317*
c.951C>A
4 papers
NM_005629.4
p.Y317*
c.951C>G
2 papers
NM_005629.4
p.S329C
c.985A>T
2 papers
NM_005629.4
p.Y317insFs
c.950_951insA
1 paper
NM_005629.4
p.Y317fs
c.949_950fs
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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."