Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A3
Variant:p.V196M

SLC7A3

115 papers

RefSeq Summary

This gene encodes a member of the solute carrier family 7. The encoded protein is a sodium-independent cationic amino acid transporter. Alternate splicing results in multiple transcripts that encoded ...

Pfam Domains

AA_permease_2aa 32–465UCSCAmino acid permease
AA_permease_Caa 539–589UCSCC-terminus of AA_permease

Gene Aliases

HGNC Name

solute carrier family 7 member 3

HGNC Alias Symbols

CAT-3; ATRC3; FLJ14541

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032803.6
p.V196M
c.586G>A
Surrounding Variants
1 paper
NM_032803.6
p.V192A
c.575T>C
1 paper
NM_032803.6
p.L188Q
c.563T>A
1 paper
NM_032803.6
p.F203F
c.609C>T
1 paper
NM_032803.6
p.S186L
c.557C>T
1 paper
NM_032803.6
p.E185G
c.554A>G
2 papers
NM_032803.6
p.S184G
c.550A>G
1 paper
NM_032803.6
p.G212delFs
c.635delC
1 paper
NM_032803.6
p.V214A
c.641T>C
1 paper
NM_032803.6
p.V214V
c.642G>A
1 paper
NM_032803.6
p.T220T
c.660A>G
1 paper
NM_032803.6
p.A227P
c.679G>C
1 paper
NM_032803.6
p.Y235Y
c.705T>C
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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."