Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.L14V

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.L14V
c.40C>G
Surrounding Variants
1 paper
NM_000207.3
p.L14L
c.40C>T
1 paper
NM_000207.3
p.L14ins5
c.40_41ins15
1 paper
NM_000207.3
p.L14insFs
c.40_41insG
2 papers
NM_000207.3
p.L14M
c.40C>A
2 papers
NM_000207.3
p.L14R
c.41T>G
2 papers
NM_000207.3
p.L14P
c.41T>C
3 papers
NM_000207.3
p.L14Q
c.41T>A
1 paper
NM_000207.3
p.L13L
c.39G>A
1 paper
NM_000207.3
p.L13insFs
c.37dupC
1 paper
NM_000207.3
p.L13insFs
c.38_39insGC
1 paper
NM_000207.3
p.L13ins4
c.37_38ins12
6 papers
NM_000207.3
p.L13R
c.38T>G
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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."