Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.T481I

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
2 papers
NM_005629.4
p.T481I
c.1442C>T
Surrounding Variants
3 papers
NM_005629.4
p.S479S
c.1437C>T
1 paper
NM_005629.4
p.L484F
c.1450C>T
1 paper
NM_005629.4
p.A478fs
c.1432_1433fs
1 paper
NM_005629.4
p.A478insFs
c.1432dupG
4 papers
NM_005629.4
p.S477L
c.1430C>T
1 paper
NM_005629.4
p.Y476*
c.1428C>A
3 papers
NM_005629.4
p.Y476*
c.1428C>G
5 papers
NM_005629.4
p.Q486*
c.1456C>T
1 paper
NM_005629.4
p.Y475*
c.1425C>A
1 paper
NM_005629.4
p.Y475*
c.1425C>G
2 papers
NM_005629.4
p.A487S
c.1459G>T
4 papers
NM_005629.4
p.D474G
c.1421A>G
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