Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.R440fs

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.R440fs
c.1318_1319fs
Surrounding Variants
1 paper
NM_005629.4
p.R440H
c.1319G>A
1 paper
NM_005629.4
p.R440insFs
c.1318dupC
2 papers
NM_005629.4
p.Q442delFs
c.1324delC
1 paper
NM_005629.4
p.Q442delFs
c.1325_1326delAA
2 papers
NM_005629.4
p.Q442fs
c.1324_1325fs
1 paper
NM_005629.4
p.Y437delFs
c.1310_1311delAC
1 paper
NM_005629.4
p.E444*
c.1330G>T
1 paper
NM_005629.4
p.S436A
c.1306T>G
1 paper
NM_005629.4
p.E444V
c.1331A>T
1 paper
NM_005629.4
p.P434L
c.1301C>T
1 paper
NM_005629.4
p.P434S
c.1300C>T
2 papers
NM_005629.4
p.P434fs
c.1300_1301fs
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