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
2 papers
NM_005629.4
p.D464_G465Splc
c.1393-36G>A
Surrounding Variants
3 papers
NM_005629.4
p.D464_G465Splc
c.1392+31T>C
2 papers
NM_005629.4
p.D464_G465Splc
c.1392+12G>T
1 paper
NM_005629.4
p.D464_G465Splc
c.1393-1G>A
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.D464del1
c.1390_1392delGAT
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.M461I
c.1383G>A
1 paper
NM_005629.4
p.M461I
c.1383G>C
1 paper
NM_005629.4
p.M461I
c.1383G>T
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