Varaico: Literature-Extracted Genetic Variants

Gene:SHANK3

SHANK3

354 papers

RefSeq Summary

This gene is a member of the Shank gene family. Shank proteins are multidomain scaffold proteins of the postsynaptic density that connect neurotransmitter receptors, ion channels, and other membrane p...

Gene Aliases

HGNC Name

SH3 and multiple ankyrin repeat domains 3

HGNC Alias Symbols

SPANK-2; prosap2; KIAA1650; PSAP2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 460 variants
25 papers
NM_001372044.2
p.E1227insFs
c.3679dupG
13 papers
NM_001372044.2
p.R536W
c.1606C>T
7 papers
NM_001372044.2
p.W1243insFs
c.3727dupT
5 papers
NM_001372044.2
p.M1insFs
c.2dupT
5 papers
NM_001372044.2
p.T158M
c.473C>T
4 papers
NM_001372044.2
p.R87C
c.259C>T
4 papers
NM_001372044.2
p.R447insFs
c.1339_1340insG
4 papers
NM_001372044.2
p.A1289insFs
c.3865dupG
4 papers
NM_001372044.2
p.E1311delFs
c.3931delG
4 papers
NM_001372044.2
p.A1339_D1340insG
c.4015_4019ins3
4 papers
NM_001372044.2
p.P1645P
c.4935C>T
3 papers
NM_001372044.2
p.M1V
c.1A>G
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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."