Varaico: Literature-Extracted Genetic Variants

Gene:STON1
Variant:p.N642K

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.N642K
c.1926T>G
Surrounding Variants
1 paper
NM_006873.4
p.N642K
c.1926T>A
1 paper
NM_006873.4
p.P613A
c.1837C>G
5 papers
NM_006873.4
p.Q607H
c.1821G>C
5 papers
NM_006873.4
p.Q607H
c.1821G>T
1 paper
NM_006873.4
p.Q588R
c.1763A>G
1 paper
NM_006873.4
p.R555fs
c.1663_1664fs
1 paper
NM_006873.4
p.A539S
c.1615G>T
1 paper
NM_006873.4
p.G538V
c.1613G>T
1 paper
NM_006873.4
p.V533L
c.1597G>C
1 paper
NM_006873.4
p.V533L
c.1597G>T
1 paper
NM_006873.4
p.D508_A509insT
c.1522_1526ins3
2 papers
NM_006873.4
p.E495K
c.1483G>A
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