Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.L39V

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.L39V
c.115C>G
Surrounding Variants
1 paper
NM_000207.3
p.L39F
c.115C>T
1 paper
NM_000207.3
p.L39_Y40insG
c.115_119ins3
4 papers
NM_000207.3
p.L39P
c.116T>C
4 papers
NM_000207.3
p.A38A
c.114T>A
3 papers
NM_000207.3
p.L39H
c.116T>A
1 paper
NM_000207.3
p.L39delFs
c.115delG
2 papers
NM_000207.3
p.A38V
c.113C>T
1 paper
NM_000207.3
p.L39L
c.117C>T
1 paper
NM_000207.3
p.A38G
c.113C>G
1 paper
NM_000207.3
p.L39_Y40ins2
c.117_118ins6
1 paper
NM_000207.3
p.A38insFs
c.113_114insA
1 paper
NM_000207.3
p.A38insFs
c.113_114ins4
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."