Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.C96Y

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
117 papers
NM_000207.3
p.C96Y
c.287G>A
Surrounding Variants
1 paper
NM_000207.3
p.C96F
c.287G>T
12 papers
NM_000207.3
p.C96S
c.287G>C
1 paper
NM_000207.3
p.C96insFs
c.286_287insG
1 paper
NM_000207.3
p.C95_C96insFs
c.285_286insC
1 paper
NM_000207.3
p.C95_C96ins4
c.285_286ins12
1 paper
NM_000207.3
p.C96insFs
c.286_287insA
18 papers
NM_000207.3
p.C96R
c.286T>C
13 papers
NM_000207.3
p.C96S
c.286T>A
1 paper
NM_000207.3
p.C96*
c.288T>A
1 paper
NM_000207.3
p.C96delFs
c.287delC
1 paper
NM_000207.3
p.C95C
c.285C>T
2 papers
NM_000207.3
p.C95W
c.285C>G
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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."