Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.K339Splc

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.K339Splc
c.1017-38C>G
Surrounding Variants
2 papers
NM_005629.4
p.K339_S349del0
c.1017_1046del30
1 paper
NM_005629.4
p.K339Splc
c.1017-1G>A
1 paper
NM_005629.4
p.D340G
c.1019A>G
1 paper
NM_005629.4
p.A341T
c.1021G>A
3 papers
NM_005629.4
p.K339Splc
c.1016+9C>T
1 paper
NM_005629.4
p.K339Splc
c.1016+2T>A
4 papers
NM_005629.4
p.K339Splc
c.1016+2T>C
5 papers
NM_005629.4
p.I347del1
c.1039_1040delATC
14 papers
NM_005629.4
p.C337W
c.1011C>G
1 paper
NM_005629.4
p.G350G
c.1050G>T
3 papers
NM_005629.4
p.F353_F354del1
c.1059_1061delCTT
18 papers
NM_005629.4
p.N336del1
c.1006_1008delAAC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."