Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.Y103C

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
16 papers
NM_000207.3
p.Y103C
c.308A>G
Surrounding Variants
1 paper
NM_000207.3
p.Y103Y
c.309C>T
1 paper
NM_000207.3
p.Y103*
c.309C>G
1 paper
NM_000207.3
p.Y103*
c.309C>A
1 paper
NM_000207.3
p.Y103_Q104insFs
c.309_310insCT
1 paper
NM_000207.3
p.L102L
c.306C>A
1 paper
NM_000207.3
p.L102insFs
c.305_306ins29
1 paper
NM_000207.3
p.S101insFs
c.302_303insCC
2 papers
NM_000207.3
p.L102P
c.305T>C
3 papers
NM_000207.3
p.L102H
c.305T>A
1 paper
NM_000207.3
p.L102delFs
c.304delG
4 papers
NM_000207.3
p.Q104R
c.311A>G
1 paper
NM_000207.3
p.Q104P
c.311A>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."