Varaico: Literature-Extracted Genetic Variants

Gene:SGIP1
Variant:p.C633S

SGIP1

88 papers

RefSeq Summary

SGIP1 functions as an endocytic protein that affects signaling by receptors in neuronal systems involved in energy homeostasis via its interaction with endophilins (see SH3GL3; MIM 603362) (Trevaskis ...

Pfam Domains

muHDaa 560–827UCSCMuniscin C-terminal mu homology domain

Gene Aliases

HGNC Name

SH3GL interacting endocytic adaptor 1

HGNC Alias Symbol

DKFZp761D221

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032291.4
p.C633S
c.1898G>C
Surrounding Variants
1 paper
NM_032291.4
p.C633S
c.1897T>A
1 paper
NM_032291.4
p.C632S
c.1895G>C
1 paper
NM_032291.4
p.C632S
c.1894T>A
1 paper
NM_032291.4
p.P606Q
c.1817C>A
2 papers
NM_032291.4
p.A596S
c.1786G>T
1 paper
NM_032291.4
p.F594L
c.1782T>A
1 paper
NM_032291.4
p.F594L
c.1782T>G
1 paper
NM_032291.4
p.F594L
c.1780T>C
1 paper
NM_032291.4
p.V591G
c.1772T>G
1 paper
NM_032291.4
p.G588R
c.1762G>A
1 paper
NM_032291.4
p.G588R
c.1762G>C
1 paper
NM_032291.4
p.N670D
c.2008A>G
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