Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A10
Variant:p.I129N

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.I129N
c.386T>A
Surrounding Variants
1 paper
NM_019849.3
p.Y131_P132insT
c.391_395ins3
1 paper
NM_019849.3
p.A126S
c.376G>T
1 paper
NM_019849.3
p.A126T
c.376G>A
1 paper
NM_019849.3
p.T158fs
c.472_473fs
2 papers
NM_019849.3
p.P157delFs
c.471delG
1 paper
NM_019849.3
p.M170Splc
c.508+51T>C
2 papers
NM_019849.3
p.T184M
c.551C>T
1 paper
NM_019849.3
p.G193R
c.577G>C
1 paper
NM_019849.3
p.G193R
c.577G>A
1 paper
NM_019849.3
p.G203S
c.607G>A
1 paper
NM_019849.3
p.I209M
c.627C>G
1 paper
NM_019849.3
p.G212Splc
c.634+8C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."