Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.C43delFs

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.C43delFs
c.129delG
Surrounding Variants
1 paper
NM_000207.3
p.C43delins
c.129delinsCAGCTCTGGGGGCTGCTGT
11 papers
NM_000207.3
p.G44R
c.130G>C
11 papers
NM_000207.3
p.G44R
c.130G>A
2 papers
NM_000207.3
p.G44A
c.131G>C
1 paper
NM_000207.3
p.G44E
c.131G>A
1 paper
NM_000207.3
p.C43C
c.129C>T
1 paper
NM_000207.3
p.V42delFs
c.124_125delAC
3 papers
NM_000207.3
p.C43F
c.128G>T
1 paper
NM_000207.3
p.G44G
c.132G>T
1 paper
NM_000207.3
p.C43_G44insFs
c.127_131dup5
1 paper
NM_000207.3
p.G44fs
c.130_131fs
4 papers
NM_000207.3
p.C43S
c.128G>C
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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."