Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.G424D

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
14 papers
NM_005629.4
p.G424D
c.1271G>A
Surrounding Variants
3 papers
NM_005629.4
p.G428_L430del3
c.1282_1289del9
2 papers
NM_005629.4
p.G421R
c.1261G>C
2 papers
NM_005629.4
p.G428S
c.1282G>A
3 papers
NM_005629.4
p.L433_Y437delFs
c.1299_1309del11
1 paper
NM_005629.4
p.P434S
c.1300C>T
2 papers
NM_005629.4
p.P434fs
c.1300_1301fs
1 paper
NM_005629.4
p.P434L
c.1301C>T
1 paper
NM_005629.4
p.S436A
c.1306T>G
1 paper
NM_005629.4
p.Y437delFs
c.1310_1311delAC
1 paper
NM_005629.4
p.R440insFs
c.1318dupC
2 papers
NM_005629.4
p.Q418_F419Splc
c.1255-31C>T
1 paper
NM_005629.4
p.R440fs
c.1318_1319fs
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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."