Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.G44_E45ins0

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.G44_E45ins0
c.132_134dupGGA
Surrounding Variants
1 paper
NM_000207.3
p.E45_R46insFs
c.135_136insTC
1 paper
NM_000207.3
p.E45delFs
c.133_134delTC
5 papers
NM_000207.3
p.R46*
c.136C>T
1 paper
NM_000207.3
p.R46_G47insC
c.136_140ins3
1 paper
NM_000207.3
p.R46_G47insVR
c.136_140ins6
1 paper
NM_000207.3
p.R46insFs
c.136_137ins5
2 papers
NM_000207.3
p.E45V
c.134A>T
1 paper
NM_000207.3
p.E45A
c.134A>C
1 paper
NM_000207.3
p.E45ins1
c.134_135insCGC
7 papers
NM_000207.3
p.R46L
c.137G>T
1 paper
NM_000207.3
p.R46insFs
c.137_138insTG
1 paper
NM_000207.3
p.R46insFs
c.136_137insC
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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."