Varaico: Literature-Extracted Genetic Variants

Gene:INS

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
1–12 of 879 variants
117 papers
NM_000207.3
p.C96Y
c.287G>A
53 papers
NM_000207.3
p.G32S
c.94G>A
51 papers
NM_000207.3
p.R89C
c.265C>T
46 papers
NM_000207.3
p.V92V
c.276G>T
32 papers
NM_000207.3
p.R6C
c.16C>T
32 papers
NM_000207.3
p.R46Q
c.137G>A
30 papers
NM_000207.3
p.C95S
c.283T>A
30 papers
NM_000207.3
p.C95S
c.284G>C
28 papers
NM_000207.3
p.A24D
c.71C>A
27 papers
NM_000207.3
p.R55C
c.163C>T
26 papers
NM_000207.3
p.M1I
c.3G>A
24 papers
NM_000207.3
p.R6H
c.17G>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."