Varaico: Literature-Extracted Genetic Variants

Gene:SGIP1
Variant:p.E377*

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.E377*
c.1129G>T
Surrounding Variants
1 paper
NM_032291.4
p.Q380K
c.1138C>A
1 paper
NM_032291.4
p.V370L
c.1108G>C
1 paper
NM_032291.4
p.V370L
c.1108G>T
1 paper
NM_032291.4
p.E385K
c.1153G>A
1 paper
NM_032291.4
p.R368H
c.1103G>A
1 paper
NM_032291.4
p.F388L
c.1162T>C
1 paper
NM_032291.4
p.F388L
c.1164C>A
1 paper
NM_032291.4
p.F388L
c.1164C>G
1 paper
NM_032291.4
p.D392Y
c.1174G>T
1 paper
NM_032291.4
p.P361T
c.1081C>A
1 paper
NM_032291.4
p.P360L
c.1079C>T
1 paper
NM_032291.4
p.S399Y
c.1196C>A
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