Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.L80fs

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.L80fs
c.238_239fs
Surrounding Variants
1 paper
NM_000207.3
p.P79insFs
c.237dupC
1 paper
NM_000207.3
p.L80L
c.238T>C
1 paper
NM_000207.3
p.L80M
c.238T>A
1 paper
NM_000207.3
p.A74_P79delFs
c.221_236del16
1 paper
NM_000207.3
p.L80insFs
c.238_239ins47
1 paper
NM_000207.3
p.L80W
c.239T>G
1 paper
NM_000207.3
p.L80insFs
c.239dupT
1 paper
NM_000207.3
p.P79_L80ins0
c.237_239dupCTT
1 paper
NM_000207.3
p.S76_L80ins1
c.228_239dup12
1 paper
NM_000207.3
p.G75_L80ins2
c.225_239dup15
1 paper
NM_000207.3
p.A74_L80ins2
c.222_239dup18
1 paper
NM_000207.3
p.Q78insFs
c.232_233ins38
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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."