Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.D20A

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.D20A
c.59A>C
Surrounding Variants
1 paper
NM_000207.3
p.D20V
c.59A>T
9 papers
NM_000207.3
p.D20G
c.59A>G
1 paper
NM_000207.3
p.D20Y
c.58G>T
1 paper
NM_000207.3
p.P19insFs
c.57dupT
1 paper
NM_000207.3
p.D20N
c.58G>A
2 papers
NM_000207.3
p.D20D
c.60C>T
4 papers
NM_000207.3
p.D20E
c.60C>G
1 paper
NM_000207.3
p.P19_D20ins5
c.57_58ins15
1 paper
NM_000207.3
p.P19_D20insFs
c.57_58insA
1 paper
NM_000207.3
p.P21A
c.61C>G
1 paper
NM_000207.3
p.P21T
c.61C>A
1 paper
NM_000207.3
p.P19L
c.56C>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."