Varaico: Literature-Extracted Genetic Variants

Gene:STON2
Variant:p.S771S

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.S771S
c.2313C>A
Surrounding Variants
2 papers
NM_001394390.1
p.T768I
c.2303C>T
1 paper
NM_001394390.1
p.S762G
c.2284A>G
1 paper
NM_001394390.1
p.A756V
c.2267C>T
1 paper
NM_001394390.1
p.N754T
c.2261A>C
1 paper
NM_001394390.1
p.A750delFs
c.2248delC
1 paper
NM_001394390.1
p.E730D
c.2190G>T
2 papers
NM_001394390.1
p.R816R
c.2448G>C
2 papers
NM_001394390.1
p.S716L
c.2147C>T
1 paper
NM_001394390.1
p.T694A
c.2080A>G
1 paper
NM_001394390.1
p.M689T
c.2066T>C
1 paper
NM_001394390.1
p.L676F
c.2026C>T
1 paper
NM_001394390.1
p.G671A
c.2012G>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."