Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.L30M

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
15 papers
NM_000207.3
p.L30M
c.88C>A
Surrounding Variants
8 papers
NM_000207.3
p.L30V
c.88C>G
1 paper
NM_000207.3
p.L30_C31insC
c.88_92ins3
1 paper
NM_000207.3
p.H29_L30insFs
c.87_88insC
3 papers
NM_000207.3
p.L30R
c.89T>G
15 papers
NM_000207.3
p.L30P
c.89T>C
4 papers
NM_000207.3
p.L30Q
c.89T>A
4 papers
NM_000207.3
p.L30delFs
c.88delG
2 papers
NM_000207.3
p.H29Q
c.87C>G
3 papers
NM_000207.3
p.H29Q
c.87C>A
1 paper
NM_000207.3
p.Q28del1
c.82_83delTTG
1 paper
NM_000207.3
p.L30_C31ins15
c.90_91ins45
1 paper
NM_000207.3
p.L30_C31insFs
c.90_91insA
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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."