Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.V63_G64insAAP

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.V63_G64insGGC
c.187_191ins9
Surrounding Variants
1 paper
NM_000207.3
p.V63_G64ins9
c.187_191ins27
2 papers
NM_000207.3
p.V63M
c.187G>A
1 paper
NM_000207.3
p.V63Splc
c.187+1G>T
1 paper
NM_000207.3
p.Q62_V63insFs
c.186_187ins16
1 paper
NM_000207.3
p.Q62insFs
c.185_186insA
1 paper
NM_000207.3
p.V63Splc
c.187+1G>A
2 papers
NM_000207.3
p.V63Splc
c.187+2T>C
3 papers
NM_000207.3
p.Q62R
c.185A>G
1 paper
NM_000207.3
p.Q62P
c.185A>C
1 paper
NM_000207.3
p.Q62insFs
c.184dupC
11 papers
NM_000207.3
p.Q62*
c.184C>T
1 paper
NM_000207.3
p.L61_Q62insFs
c.183_184insC
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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."