Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.L105L

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
3 papers
NM_000207.3
p.L105L
c.313C>T
Surrounding Variants
2 papers
NM_000207.3
p.L105V
c.313C>G
1 paper
NM_000207.3
p.L105R
c.314T>G
6 papers
NM_000207.3
p.L105P
c.314T>C
3 papers
NM_000207.3
p.Q104del1
c.310_311delCTG
2 papers
NM_000207.3
p.L105_E106insFs
c.315_316insC
4 papers
NM_000207.3
p.Q104R
c.311A>G
1 paper
NM_000207.3
p.Q104P
c.311A>C
2 papers
NM_000207.3
p.Q104insFs
c.310_311insC
1 paper
NM_000207.3
p.Y103_Q104ins1
c.309_310insCCT
1 paper
NM_000207.3
p.Y103_Q104insFs
c.309_310ins4
1 paper
NM_000207.3
p.E106*
c.316G>T
1 paper
NM_000207.3
p.E106_N107insCGC
c.316_320ins9
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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."