Varaico: Literature-Extracted Genetic Variants

Gene:INSIG1
Variant:p.L104P

INSIG1

51 papers

RefSeq Summary

This gene encodes an endoplasmic reticulum membrane protein that regulates cholesterol metabolism, lipogenesis, and glucose homeostasis. The encoded protein has six transmembrane helices which contain...

Pfam Domains

INSIGaa 86–267UCSCInsulin-induced protein (INSIG)

Gene Aliases

HGNC Name

insulin induced gene 1

HGNC Alias Symbols

CL-6; MGC1405

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005542.6
p.L104P
c.311T>C
Surrounding Variants
1 paper
NM_005542.6
p.I107M
c.321C>G
1 paper
NM_005542.6
p.L113L
c.339C>G
1 paper
NM_005542.6
p.Q86*
c.256C>T
2 papers
NM_005542.6
p.S74G
c.220A>G
1 paper
NM_005542.6
p.M67K
c.200T>A
1 paper
NM_005542.6
p.R63L
c.188G>T
1 paper
NM_005542.6
p.A59E
c.176C>A
1 paper
NM_005542.6
p.A53T
c.157G>A
1 paper
NM_005542.6
p.I38M
c.114C>G
2 papers
NM_005542.6
p.A27T
c.79G>A
1 paper
NM_005542.6
p.R24G
c.70C>G
1 paper
NM_005542.6
p.H15H
c.45C>T
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