Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.L412_D416delFs

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.L412_D416delFs
c.1235_1248del14
Surrounding Variants
2 papers
NM_005629.4
p.L412M
c.1234C>A
1 paper
NM_005629.4
p.L412L
c.1234C>T
2 papers
NM_005629.4
p.L411S
c.1232T>C
2 papers
NM_005629.4
p.G414del1
c.1240_1241delGGT
1 paper
NM_005629.4
p.L415_D416delFs
c.1244_1248del5
1 paper
NM_005629.4
p.L415fs
c.1243_1244fs
2 papers
NM_005629.4
p.S417R
c.1249A>C
2 papers
NM_005629.4
p.S417R
c.1251C>A
2 papers
NM_005629.4
p.S417R
c.1251C>G
29 papers
NM_005629.4
p.F408del1
c.1222_1223delTTC
1 paper
NM_005629.4
p.L405M
c.1213C>A
1 paper
NM_005629.4
p.A404D
c.1211C>A
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