Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.L7L

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
2 papers
NM_000207.3
p.L7L
c.21C>T
Surrounding Variants
1 paper
NM_000207.3
p.L7L
c.21C>G
3 papers
NM_000207.3
p.R6insFs
c.18dupC
1 paper
NM_000207.3
p.L7R
c.20T>G
5 papers
NM_000207.3
p.L7P
c.20T>C
1 paper
NM_000207.3
p.L8L
c.22C>T
1 paper
NM_000207.3
p.L8_P9insC
c.22_26ins3
2 papers
NM_000207.3
p.L8M
c.22C>A
5 papers
NM_000207.3
p.L8Q
c.23T>A
1 paper
NM_000207.3
p.L7F
c.19C>T
2 papers
NM_000207.3
p.L7insFs
c.19_20insG
1 paper
NM_000207.3
p.L7I
c.19C>A
2 papers
NM_000207.3
p.L8insFs
c.23dupT
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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."