Varaico: Literature-Extracted Genetic Variants

Gene:STON2
Variant:p.E525K

STON2

43 papers

RefSeq Summary

This gene encodes a protein which is a membrane protein involved in regulating endocytotic complexes. The protein product is described as one of the clathrin-associated sorting proteins, adaptor molec...

Pfam Domains

Stonin2_Naa 1–231UCSCStonin 2
Stonin2_Naa 205–397UCSCStonin 2
Adap_comp_subaa 614–931UCSCAdaptor complexes medium subunit family

Gene Aliases

HGNC Name

stonin 2

HGNC Alias Symbols

STNB2; STN2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001394390.1
p.E525K
c.1573G>A
Surrounding Variants
1 paper
NM_001394390.1
p.H537Y
c.1609C>T
1 paper
NM_001394390.1
p.R543Q
c.1628G>A
1 paper
NM_001394390.1
p.P571T
c.1711C>A
1 paper
NM_001394390.1
p.V575V
c.1725G>T
1 paper
NM_001394390.1
p.W466*
c.1397G>A
1 paper
NM_001394390.1
p.V584M
c.1750G>A
2 papers
NM_001394390.1
p.P463A
c.1387C>G
2 papers
NM_001394390.1
p.G588D
c.1763G>A
1 paper
NM_001394390.1
p.D594N
c.1780G>A
2 papers
NM_001394390.1
p.H600Y
c.1798C>T
2 papers
NM_001394390.1
p.D644N
c.1930G>A
1 paper
NM_001394390.1
p.S403F
c.1208C>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."