Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.D464_G465Splc

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
1 paper
NM_005629.4
p.D464_G465Splc
c.1393-1G>A
Surrounding Variants
13 papers
NM_005629.4
p.G466R
c.1396G>A
NM_001142806.1
p.G351R
c.1051G>A
NM_001142805.2
p.G456R
c.1366G>A
12 papers
NM_005629.4
p.G466R
c.1396G>C
NM_001142806.1
p.G351R
c.1051G>C
NM_001142805.2
p.G456R
c.1366G>C
1 paper
NM_005629.4
p.M467_V469del3
c.1399_1406del9
1 paper
NM_005629.4
p.V469I
c.1405G>A
1 paper
NM_005629.4
p.V469L
c.1405G>C
1 paper
NM_005629.4
p.Q471P
c.1412A>C
1 paper
NM_005629.4
p.F473_D474delFs
c.1417_1420del4
3 papers
NM_005629.4
p.L472L
c.1416G>A
1 paper
NM_005629.4
p.F473fs
c.1417_1418fs
4 papers
NM_005629.4
p.D474G
c.1421A>G
1 paper
NM_005629.4
p.Y475*
c.1425C>A
1 paper
NM_005629.4
p.Y475*
c.1425C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."