Varaico: Literature-Extracted Genetic Variants

Gene:STON1
Variant:p.L458V

STON1

49 papers

RefSeq Summary

Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surface of the plasma membrane. This gene encodes one of two human homologs of the Drosoph...

Pfam Domains

Adap_comp_subaa 401–715UCSCAdaptor complexes medium subunit family

Gene Aliases

HGNC Name

stonin 1

HGNC Alias Symbols

SBLF; stoned-b1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006873.4
p.L458V
c.1372T>G
Surrounding Variants
1 paper
NM_006873.4
p.P464L
c.1391C>T
1 paper
NM_006873.4
p.G450E
c.1349G>A
1 paper
NM_006873.4
p.S475*
c.1424C>A
1 paper
NM_006873.4
p.S475*
c.1424C>G
1 paper
NM_006873.4
p.G479E
c.1436G>A
1 paper
NM_006873.4
p.V434A
c.1301T>C
2 papers
NM_006873.4
p.E495K
c.1483G>A
1 paper
NM_006873.4
p.E411K
c.1231G>A
1 paper
NM_006873.4
p.D508_A509insT
c.1522_1526ins3
1 paper
NM_006873.4
p.S404A
c.1210T>G
1 paper
NM_006873.4
p.V533L
c.1597G>C
1 paper
NM_006873.4
p.V533L
c.1597G>T
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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."