Varaico: Literature-Extracted Genetic Variants

Gene:SGIP1
Variant:p.E70*

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.E70*
c.208G>T
Surrounding Variants
1 paper
NM_032291.4
p.Y68fs
c.202_203fs
1 paper
NM_032291.4
p.Y68delFs
c.202delT
1 paper
NM_032291.4
p.Y76_N77Splc
c.229-17G>T
1 paper
NM_032291.4
p.P79insFs
c.235_236ins31
4 papers
NM_032291.4
p.E112Q
c.334G>C
1 paper
NM_032291.4
p.E112A
c.335A>C
1 paper
NM_032291.4
p.S57L
c.170C>T
1 paper
NM_032291.4
p.E51V
c.152A>T
5 papers
NM_032291.4
p.K131R
c.392A>G
1 paper
NM_032291.4
p.E39K
c.115G>A
2 papers
NM_032291.4
p.A147T
c.439G>A
1 paper
NM_032291.4
p.L148I
c.442C>A
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