Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.Y108N

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
1 paper
NM_000207.3
p.Y108N
c.322T>A
Surrounding Variants
3 papers
NM_000207.3
p.Y108D
c.322T>G
21 papers
NM_000207.3
p.Y108C
c.323A>G
1 paper
NM_000207.3
p.Y108insFs
c.323_324ins10
8 papers
NM_000207.3
p.Y108*
c.324C>G
9 papers
NM_000207.3
p.Y108*
c.324C>A
1 paper
NM_000207.3
p.N107I
c.320A>T
1 paper
NM_000207.3
p.Y108insFs
c.324dupC
1 paper
NM_000207.3
p.C109insFs
c.325_326ins4
1 paper
NM_000207.3
p.C109_N110insRR
c.325_329ins6
1 paper
NM_000207.3
p.C109_N110insFKK
c.325_329ins9
2 papers
NM_000207.3
p.C109G
c.325T>G
4 papers
NM_000207.3
p.C109R
c.325T>C
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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."