Varaico: Literature-Extracted Genetic Variants

Gene:SLC7A7
Variant:p.G207S

SLC7A7

221 papers

RefSeq Summary

The protein encoded by this gene is the light subunit of a cationic amino acid transporter. This sodium-independent transporter is formed when the light subunit encoded by this gene dimerizes with the...

Pfam Domains

AA_permease_2aa 37–460UCSCAmino acid permease

Gene Aliases

HGNC Name

solute carrier family 7 member 7

HGNC Previous Symbol

LPI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003982.4
p.G207S
c.619G>A
Surrounding Variants
1 paper
NM_003982.4
p.Q208*
c.622C>T
8 papers
NM_003982.4
p.G209Splc
c.625+1G>C
28 papers
NM_003982.4
p.G209Splc
c.625+1G>A
1 paper
NM_003982.4
p.A197A
c.591G>A
2 papers
NM_003982.4
p.K191E
c.571A>G
2 papers
NM_003982.4
p.T188I
c.563C>T
1 paper
NM_003982.4
p.D185_F187Fs
c.554_559delinsTGTGFs
2 papers
NM_003982.4
p.V183fs
c.547_548fs
1 paper
NM_003982.4
p.V183G
c.548T>G
3 papers
NM_003982.4
p.L182insFs
c.545dupT
1 paper
NM_003982.4
p.W179C
c.537G>T
1 paper
NM_003982.4
p.W179C
c.537G>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."