Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A3
Variant:p.A333V

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.A333V
c.998C>T
Surrounding Variants
1 paper
NM_032803.6
p.A331T
c.991G>A
1 paper
NM_032803.6
p.L326H
c.977T>A
1 paper
NM_032803.6
p.P320fs
c.958_959fs
1 paper
NM_032803.6
p.P320delFs
c.959delG
1 paper
NM_032803.6
p.P317S
c.949C>T
1 paper
NM_032803.6
p.A305T
c.913G>A
1 paper
NM_032803.6
p.R282H
c.845G>A
1 paper
NM_032803.6
p.G351V
c.1052G>T
1 paper
NM_032803.6
p.T273I
c.818C>T
1 paper
NM_032803.6
p.T378S
c.1132A>T
1 paper
NM_032803.6
p.T378S
c.1133C>G
1 paper
NM_032803.6
p.R381H
c.1142G>A
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