Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A10
Variant:p.L334R

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
3 papers
NM_019849.3
p.L334R
c.1001T>G
Surrounding Variants
1 paper
NM_019849.3
p.Y333F
c.998A>T
1 paper
NM_019849.3
p.Y333S
c.998A>C
1 paper
NM_019849.3
p.R339G
c.1015A>G
1 paper
NM_019849.3
p.G329W
c.985G>T
1 paper
NM_019849.3
p.S325A
c.973T>G
1 paper
NM_019849.3
p.A323_L324del1
c.969_971delAGA
1 paper
NM_019849.3
p.S321F
c.962C>T
1 paper
NM_019849.3
p.V320V
c.960C>G
1 paper
NM_019849.3
p.G307A
c.920G>C
1 paper
NM_019849.3
p.G307E
c.920G>A
1 paper
NM_019849.3
p.G307W
c.919G>T
2 papers
NM_019849.3
p.G307R
c.919G>C
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