Varaico: Literature-Extracted Genetic Variants

Gene:STON1
Variant:p.W276*

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.W276*
c.828G>A
Surrounding Variants
1 paper
NM_006873.4
p.W276*
c.827G>A
1 paper
NM_006873.4
p.V301I
c.901G>A
1 paper
NM_006873.4
p.K334N
c.1002G>C
1 paper
NM_006873.4
p.R210K
c.629G>A
1 paper
NM_006873.4
p.L170fs
c.508_509fs
1 paper
NM_006873.4
p.S404A
c.1210T>G
1 paper
NM_006873.4
p.E411K
c.1231G>A
4 papers
NM_006873.4
p.R127T
c.380G>C
1 paper
NM_006873.4
p.V434A
c.1301T>C
1 paper
NM_006873.4
p.G450E
c.1349G>A
1 paper
NM_006873.4
p.L458V
c.1372T>G
1 paper
NM_006873.4
p.P464L
c.1391C>T
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