Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.L82ins5

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.L82ins5
c.244_245ins15
Surrounding Variants
1 paper
NM_000207.3
p.L82fs
c.244_245fs
1 paper
NM_000207.3
p.L77_A81insFs
c.230_243dup14
2 papers
NM_000207.3
p.L82R
c.245T>G
1 paper
NM_000207.3
p.L82P
c.245T>C
1 paper
NM_000207.3
p.L82Q
c.245T>A
1 paper
NM_000207.3
p.L82Fs
c.244_245delinsAFs
1 paper
NM_000207.3
p.A81A
c.243C>T
1 paper
NM_000207.3
p.A81A
c.243C>G
1 paper
NM_000207.3
p.L82insFs
c.245dupT
1 paper
NM_000207.3
p.L82L
c.246G>A
5 papers
NM_000207.3
p.A81V
c.242C>T
1 paper
NM_000207.3
p.L77_A81ins1
c.230_241dup12
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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."