Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.C100W

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.C100W
c.300C>G
Surrounding Variants
2 papers
NM_000207.3
p.S101A
c.301T>G
1 paper
NM_000207.3
p.S98_S101Fs
c.293_301delinsACFs
8 papers
NM_000207.3
p.C100Y
c.299G>A
2 papers
NM_000207.3
p.C100G
c.298T>G
2 papers
NM_000207.3
p.C100S
c.298T>A
1 paper
NM_000207.3
p.S101F
c.302C>T
14 papers
NM_000207.3
p.S101C
c.302C>G
1 paper
NM_000207.3
p.C100fs
c.298_299fs
2 papers
NM_000207.3
p.S101S
c.303C>T
1 paper
NM_000207.3
p.S101insFs
c.302_303insCG
1 paper
NM_000207.3
p.I99_C100ins3
c.297_298ins9
1 paper
NM_000207.3
p.I99_C100insFs
c.297_298insAA
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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."