Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A10
Variant:p.S56A

SLC7A10

60 papers

RefSeq Summary

SLC7A10, in association with 4F2HC (SLC3A2; MIM 158070), mediates high-affinity transport of D-serine and several other neutral amino acids (Nakauchi et al., 2000 [PubMed 10863037]).[supplied by OMIM,...

Pfam Domains

AA_permease_2aa 40–468UCSCAmino acid permease

Gene Aliases

HGNC Name

solute carrier family 7 member 10

HGNC Alias Symbol

asc-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019849.3
p.S56A
c.166T>G
Surrounding Variants
1 paper
NM_019849.3
p.G57C
c.169G>T
1 paper
NM_019849.3
p.G73C
c.217G>T
1 paper
NM_019849.3
p.V85M
c.253G>A
1 paper
NM_019849.3
p.V98V
c.294C>T
2 papers
NM_019849.3
p.G105R
c.313G>C
2 papers
NM_019849.3
p.G105R
c.313G>A
1 paper
NM_019849.3
p.E112D
c.336G>T
1 paper
NM_019849.3
p.E112D
c.336G>C
1 paper
NM_019849.3
p.G119Splc
c.356+138G>C
1 paper
NM_019849.3
p.G119Splc
c.356+162C>G
1 paper
NM_019849.3
p.A126S
c.376G>T
1 paper
NM_019849.3
p.A126T
c.376G>A
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