Varaico: Literature-Extracted Genetic Variants

Gene:STON2
Variant:p.P85T

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
1 paper
NM_001394390.1
p.P85T
c.253C>A
Surrounding Variants
1 paper
NM_001394390.1
p.P88L
c.263C>T
1 paper
NM_001394390.1
p.A81G
c.242C>G
1 paper
NM_001394390.1
p.E89*
c.265G>T
1 paper
NM_001394390.1
p.E89K
c.265G>A
1 paper
NM_001394390.1
p.P92insFs
c.275dupC
1 paper
NM_001394390.1
p.P93fs
c.277_278fs
1 paper
NM_001394390.1
p.D94N
c.280G>A
1 paper
NM_001394390.1
p.A98G
c.293C>G
1 paper
NM_001394390.1
p.S71T
c.211T>A
1 paper
NM_001394390.1
p.W102*
c.305G>A
1 paper
NM_001394390.1
p.V103V
c.309T>A
1 paper
NM_001394390.1
p.Q104H
c.312G>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."