Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.G381Splc

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.G381Splc
c.1141+18G>A
Surrounding Variants
18 papers
NM_005629.4
p.G381R
c.1141G>A
18 papers
NM_005629.4
p.G381R
c.1141G>C
4 papers
NM_005629.4
p.G381Splc
c.1141+37G>A
1 paper
NM_005629.4
p.A378E
c.1133C>A
1 paper
NM_005629.4
p.E379delFs
c.1136_1137delAG
1 paper
NM_005629.4
p.V377_G381delFs
c.1129_1141del13
1 paper
NM_005629.4
p.V372M
c.1114G>A
1 paper
NM_005629.4
p.G371insFs
c.1111_1112insA
1 paper
NM_005629.4
p.E369D
c.1107G>T
1 paper
NM_005629.4
p.E369K
c.1105G>A
1 paper
NM_005629.4
p.E369*
c.1105G>T
1 paper
NM_005629.4
p.E369fs
c.1105_1106fs
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