Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.F48_Y50ins1

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.F48_Y50ins1
c.144_149dup6
Surrounding Variants
1 paper
NM_000207.3
p.T51_P52insDDD
c.151_155ins9
1 paper
NM_000207.3
p.T51I
c.152C>T
1 paper
NM_000207.3
p.Y50Y
c.150C>T
4 papers
NM_000207.3
p.T51R
c.152C>G
2 papers
NM_000207.3
p.Y50*
c.150C>G
1 paper
NM_000207.3
p.Y50_T51insFs
c.150_151insG
1 paper
NM_000207.3
p.Y50insFs
c.148_149dupTA
1 paper
NM_000207.3
p.T51K
c.152C>A
2 papers
NM_000207.3
p.Y50F
c.149A>T
6 papers
NM_000207.3
p.Y50C
c.149A>G
3 papers
NM_000207.3
p.T51T
c.153A>G
2 papers
NM_000207.3
p.T51T
c.153A>C
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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."