Varaico: Literature-Extracted Genetic Variants

Gene:INSIG2
Variant:p.L57L

INSIG2

54 papers

RefSeq Summary

The protein encoded by this gene is highly similar to the protein product encoded by gene INSIG1. Both INSIG1 protein and this protein are endoplasmic reticulum proteins that block the processing of s...

Pfam Domains

INSIGaa 30–211UCSCInsulin-induced protein (INSIG)

Gene Aliases

HGNC Name

insulin induced gene 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016133.4
p.L57L
c.171C>T
Surrounding Variants
2 papers
NM_016133.4
p.L57F
c.169C>T
1 paper
NM_016133.4
p.I63F
c.187A>T
1 paper
NM_016133.4
p.Q50*
c.148C>T
1 paper
NM_016133.4
p.L49L
c.147T>A
1 paper
NM_016133.4
p.S68A
c.202T>G
1 paper
NM_016133.4
p.L46_I51del0
c.138_152del15
1 paper
NM_016133.4
p.V45V
c.135G>A
1 paper
NM_016133.4
p.A43_L44del1
c.129_131delATT
1 paper
NM_016133.4
p.A43_L49del0
c.128_145del18
1 paper
NM_016133.4
p.L42_A43ins5
c.124_128ins15
1 paper
NM_016133.4
p.P74fs
c.220_221fs
1 paper
NM_016133.4
p.F41_V45del0
c.123_134del12
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