Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.L3Q

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
4 papers
NM_000207.3
p.L3Q
c.8T>A
Surrounding Variants
4 papers
NM_000207.3
p.L3insFs
c.7dupC
2 papers
NM_000207.3
p.L3P
c.8T>C
1 paper
NM_000207.3
p.A2delFs
c.6delG
1 paper
NM_000207.3
p.L3insFs
c.8dupT
3 papers
NM_000207.3
p.L3L
c.7C>T
2 papers
NM_000207.3
p.L3V
c.7C>G
1 paper
NM_000207.3
p.A2insFs
c.4_5ins10
1 paper
NM_000207.3
p.A2_L3ins1
c.6_7insCGA
2 papers
NM_000207.3
p.W4_M5insC
c.10_14ins3
1 paper
NM_000207.3
p.W4G
c.10T>G
4 papers
NM_000207.3
p.W4R
c.10T>C
1 paper
NM_000207.3
p.A2A
c.6C>T
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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."