Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.W555*

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.W555*
c.1665G>A
Surrounding Variants
7 papers
NM_005629.4
p.W556*
c.1667G>A
1 paper
NM_005629.4
p.W556S
c.1667G>C
6 papers
NM_005629.4
p.W556*
c.1668G>A
3 papers
NM_005629.4
p.P554P
c.1662G>A
20 papers
NM_005629.4
p.P554L
c.1661C>T
1 paper
NM_005629.4
p.Y553*
c.1659C>A
1 paper
NM_005629.4
p.Y553*
c.1659C>G
1 paper
NM_005629.4
p.E558D
c.1674G>C
1 paper
NM_005629.4
p.E558D
c.1674G>T
5 papers
NM_005629.4
p.V552L
c.1654G>C
5 papers
NM_005629.4
p.V552L
c.1654G>T
1 paper
NM_005629.4
p.Y551Y
c.1653C>T
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