Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.R332P

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.R332P
c.995G>C
Surrounding Variants
1 paper
NM_005629.4
p.R332H
c.995G>A
5 papers
NM_005629.4
p.N331K
c.993C>A
5 papers
NM_005629.4
p.N331K
c.993C>G
1 paper
NM_005629.4
p.N331I
c.992A>T
18 papers
NM_005629.4
p.N336del1
c.1006_1008delAAC
1 paper
NM_005629.4
p.N335_N336del2
c.1003_1007del6
1 paper
NM_005629.4
p.S329I
c.986G>T
2 papers
NM_005629.4
p.S329C
c.985A>T
14 papers
NM_005629.4
p.C337W
c.1011C>G
2 papers
NM_005629.4
p.T325fs
c.973_974fs
1 paper
NM_005629.4
p.K339Splc
c.1016+2T>A
4 papers
NM_005629.4
p.K339Splc
c.1016+2T>C
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