Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.Q114H

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.Q114H
c.342G>T
Surrounding Variants
2 papers
NM_005629.4
p.Q114H
c.342G>C
1 paper
NM_005629.4
p.G113D
c.338G>A
1 paper
NM_005629.4
p.M116I
c.348G>A
1 paper
NM_005629.4
p.L112delFs
c.335_336delTG
1 paper
NM_005629.4
p.G119S
c.355G>A
7 papers
NM_005629.4
p.E109E
c.327G>A
1 paper
NM_005629.4
p.E109delFs
c.327delG
1 paper
NM_005629.4
p.L108F
c.324A>C
1 paper
NM_005629.4
p.L108L
c.324A>G
1 paper
NM_005629.4
p.L108F
c.324A>T
1 paper
NM_005629.4
p.I121I
c.363C>T
1 paper
NM_005629.4
p.L108del1
c.322_323delTTA
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