Varaico: Literature-Extracted Genetic Variants

Gene:STON2
Variant:p.V346I

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.V346I
c.1036G>A
Surrounding Variants
1 paper
NM_001394390.1
p.N355S
c.1064A>G
1 paper
NM_001394390.1
p.S364L
c.1091C>T
1 paper
NM_001394390.1
p.N370S
c.1109A>G
1 paper
NM_001394390.1
p.P310L
c.929C>T
1 paper
NM_001394390.1
p.K309R
c.926A>G
2 papers
NM_001394390.1
p.P307S
c.919C>T
1 paper
NM_001394390.1
p.S306F
c.917C>T
1 paper
NM_001394390.1
p.C299Y
c.896G>A
1 paper
NM_001394390.1
p.E393_E394insA
c.1177_1181ins3
1 paper
NM_001394390.1
p.E394K
c.1180G>A
1 paper
NM_001394390.1
p.S399S
c.1197C>A
1 paper
NM_001394390.1
p.Q400P
c.1199A>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."