Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.Y40insFs

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
2 papers
NM_000207.3
p.Y40insFs
c.118_119insGT
Surrounding Variants
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
2 papers
NM_000207.3
p.Y40N
c.118T>A
1 paper
NM_000207.3
p.L39L
c.117C>T
1 paper
NM_000207.3
p.L39_Y40ins2
c.117_118ins6
2 papers
NM_000207.3
p.Y40F
c.119A>T
1 paper
NM_000207.3
p.Y40C
c.119A>G
1 paper
NM_000207.3
p.Y40delFs
c.118delA
2 papers
NM_000207.3
p.L39delFs
c.116_117delGA
4 papers
NM_000207.3
p.L39P
c.116T>C
3 papers
NM_000207.3
p.L39H
c.116T>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."