Varaico: Literature-Extracted Genetic Variants

Gene:SLC6A8
Variant:p.M510K

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
5 papers
NM_005629.4
p.M510K
c.1529T>A
Surrounding Variants
1 paper
NM_005629.4
p.I507fs
c.1519_1520fs
1 paper
NM_005629.4
p.Y513Y
c.1539C>T
16 papers
NM_005629.4
p.R514*
c.1540C>T
1 paper
NM_005629.4
p.I507del1
c.1519_1520delATT
1 paper
NM_005629.4
p.I507_G512delFs
c.1519_1534del16
1 paper
NM_005629.4
p.I507_R514del0
c.1519_1542del24
7 papers
NM_005629.4
p.D506N
c.1516G>A
6 papers
NM_005629.4
p.I507_P515delFs
c.1519_1543del25
5 papers
NM_005629.4
p.W518*
c.1553G>A
3 papers
NM_005629.4
p.R502H
c.1505G>A
3 papers
NM_005629.4
p.R502C
c.1504C>T
5 papers
NM_005629.4
p.W518*
c.1554G>A
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