Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.C43G

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
24 papers
NM_000207.3
p.C43G
c.127T>G
Surrounding Variants
1 paper
NM_000207.3
p.C43_G44ins6
c.127_131ins18
1 paper
NM_000207.3
p.C43R
c.127T>C
4 papers
NM_000207.3
p.C43S
c.127T>A
1 paper
NM_000207.3
p.V42delFs
c.126delC
3 papers
NM_000207.3
p.C43F
c.128G>T
4 papers
NM_000207.3
p.C43S
c.128G>C
2 papers
NM_000207.3
p.C43Y
c.128G>A
2 papers
NM_000207.3
p.V42V
c.126G>A
1 paper
NM_000207.3
p.V42insFs
c.124dupG
4 papers
NM_000207.3
p.V42G
c.125T>G
5 papers
NM_000207.3
p.V42A
c.125T>C
1 paper
NM_000207.3
p.C43C
c.129C>T
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