Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.K88_R89insFs

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.K88_R89insFs
c.263_267dup5
Surrounding Variants
15 papers
NM_000207.3
p.G90C
c.268G>T
1 paper
NM_000207.3
p.G90insFs
c.268_269insC
1 paper
NM_000207.3
p.G90_I91insA
c.268_272ins3
1 paper
NM_000207.3
p.G90R
c.268G>C
4 papers
NM_000207.3
p.G90S
c.268G>A
1 paper
NM_000207.3
p.R89delFs
c.267delA
3 papers
NM_000207.3
p.G90V
c.269G>T
3 papers
NM_000207.3
p.G90D
c.269G>A
12 papers
NM_000207.3
p.R89L
c.266G>T
1 paper
NM_000207.3
p.R89insFs
c.265dupC
12 papers
NM_000207.3
p.R89P
c.266G>C
12 papers
NM_000207.3
p.R89H
c.266G>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."