Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.L39P

INS

2,975 papers

RefSeq Summary

This gene encodes insulin, a peptide hormone that plays a vital role in the regulation of carbohydrate and lipid metabolism. After removal of the precursor signal peptide, proinsulin is post-translati...

Pfam Domains

Insulinaa 28–109UCSCInsulin/IGF/Relaxin family

Gene Aliases

HGNC Name

insulin

HGNC Previous Symbols

IDDM2; IDDM1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_000207.3
p.L39P
c.116T>C
Surrounding Variants
3 papers
NM_000207.3
p.L39H
c.116T>A
1 paper
NM_000207.3
p.L39delFs
c.115delG
1 paper
NM_000207.3
p.L39L
c.117C>T
1 paper
NM_000207.3
p.L39F
c.115C>T
1 paper
NM_000207.3
p.L39V
c.115C>G
1 paper
NM_000207.3
p.L39_Y40ins2
c.117_118ins6
1 paper
NM_000207.3
p.L39_Y40insG
c.115_119ins3
2 papers
NM_000207.3
p.Y40insFs
c.118_119insGT
1 paper
NM_000207.3
p.Y40ins5
c.118_119ins15
1 paper
NM_000207.3
p.Y40insFs
c.118_119insAC
1 paper
NM_000207.3
p.Y40_L41insG
c.118_122ins3
4 papers
NM_000207.3
p.A38A
c.114T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."