Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.D458_L459delFs

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.D458_L459delFs
c.1372_1375del4
Surrounding Variants
1 paper
NM_005629.4
p.I457F
c.1369A>T
1 paper
NM_005629.4
p.V456A
c.1367T>C
2 papers
NM_005629.4
p.I457N
c.1370T>A
1 paper
NM_005629.4
p.D458N
c.1372G>A
1 paper
NM_005629.4
p.D458fs
c.1372_1373fs
1 paper
NM_005629.4
p.D458A
c.1373A>C
1 paper
NM_005629.4
p.L459P
c.1376T>C
1 paper
NM_005629.4
p.M461V
c.1381A>G
1 paper
NM_005629.4
p.M461I
c.1383G>A
1 paper
NM_005629.4
p.M461I
c.1383G>C
1 paper
NM_005629.4
p.M461I
c.1383G>T
1 paper
NM_005629.4
p.D464del1
c.1390_1392delGAT
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."