Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.F353_F354del1

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
3 papers
NM_005629.4
p.F353_F354del1
c.1059_1061delCTT
Surrounding Variants
3 papers
NM_005629.4
p.F354del1
c.1060_1061delTTT
1 paper
NM_005629.4
p.G350G
c.1050G>T
1 paper
NM_005629.4
p.V358_F365del0
c.1072_1095del24
14 papers
NM_005629.4
p.G356V
c.1067G>T
1 paper
NM_005629.4
p.V358M
c.1072G>A
5 papers
NM_005629.4
p.I347del1
c.1039_1040delATC
5 papers
NM_005629.4
p.F360del1
c.1078_1079delTTC
1 paper
NM_005629.4
p.A341T
c.1021G>A
1 paper
NM_005629.4
p.G364C
c.1090G>T
1 paper
NM_005629.4
p.D340G
c.1019A>G
2 papers
NM_005629.4
p.F365fs
c.1093_1094fs
1 paper
NM_005629.4
p.K339Splc
c.1017-1G>A
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