Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.E59D

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.E59D
c.177G>T
Surrounding Variants
2 papers
NM_000207.3
p.E59D
c.177G>C
2 papers
NM_000207.3
p.D60Y
c.178G>T
1 paper
NM_000207.3
p.D60insFs
c.178_179insC
1 paper
NM_000207.3
p.D60insFs
c.178_179insA
1 paper
NM_000207.3
p.D60H
c.178G>C
3 papers
NM_000207.3
p.D60N
c.178G>A
1 paper
NM_000207.3
p.E59V
c.176A>T
1 paper
NM_000207.3
p.E59*
c.175G>T
1 paper
NM_000207.3
p.A58insFs
c.174dupA
4 papers
NM_000207.3
p.E59K
c.175G>A
1 paper
NM_000207.3
p.D60V
c.179A>T
1 paper
NM_000207.3
p.D60A
c.179A>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."