Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.Q78delFs

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.Q78delFs
c.234delC
Surrounding Variants
1 paper
NM_000207.3
p.Q78_P79ins1
c.234_235insGGC
1 paper
NM_000207.3
p.P79_L80insP
c.235_239ins3
2 papers
NM_000207.3
p.P79T
c.235C>A
2 papers
NM_000207.3
p.Q78H
c.234G>T
5 papers
NM_000207.3
p.Q78fs
c.232_233fs
1 paper
NM_000207.3
p.Q78H
c.234G>C
1 paper
NM_000207.3
p.Q78Q
c.234G>A
5 papers
NM_000207.3
p.Q78delFs
c.233delT
1 paper
NM_000207.3
p.Q78insFs
c.232_233ins38
1 paper
NM_000207.3
p.Q78insFs
c.232_233ins38
1 paper
NM_000207.3
p.Q78insFs
c.232_233ins41
1 paper
NM_000207.3
p.P79H
c.236C>A
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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."