Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A10
Variant:p.G212Splc

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.G212Splc
c.634+8C>G
Surrounding Variants
1 paper
NM_019849.3
p.I209M
c.627C>G
1 paper
NM_019849.3
p.G203S
c.607G>A
1 paper
NM_019849.3
p.G212Splc
c.634+48C>G
1 paper
NM_019849.3
p.G193R
c.577G>C
1 paper
NM_019849.3
p.G193R
c.577G>A
2 papers
NM_019849.3
p.T184M
c.551C>T
1 paper
NM_019849.3
p.S246G
c.736A>G
1 paper
NM_019849.3
p.F250fs
c.748_749fs
1 paper
NM_019849.3
p.E257A
c.770A>C
1 paper
NM_019849.3
p.E257D
c.771G>T
1 paper
NM_019849.3
p.E257D
c.771G>C
1 paper
NM_019849.3
p.V259A
c.776T>C
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