Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.A399V

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.A399V
c.1196C>T
Surrounding Variants
1 paper
NM_005629.4
p.A399D
c.1196C>A
6 papers
NM_005629.4
p.P397L
c.1190C>T
1 paper
NM_005629.4
p.W402R
c.1204T>A
1 paper
NM_005629.4
p.W402R
c.1204T>C
1 paper
NM_005629.4
p.W402*
c.1205G>A
1 paper
NM_005629.4
p.W402*
c.1206G>A
1 paper
NM_005629.4
p.L395L
c.1185G>A
1 paper
NM_005629.4
p.A403D
c.1208C>A
1 paper
NM_005629.4
p.A403V
c.1208C>T
9 papers
NM_005629.4
p.A404P
c.1210G>C
6 papers
NM_005629.4
p.T394K
c.1181C>A
1 paper
NM_005629.4
p.A404D
c.1211C>A
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