Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.K88R

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
8 papers
NM_000207.3
p.K88R
c.263A>G
Surrounding Variants
1 paper
NM_000207.3
p.K88insFs
c.262_263dupAA
1 paper
NM_000207.3
p.K88K
c.264G>A
1 paper
NM_000207.3
p.K88insFs
c.262_263insT
51 papers
NM_000207.3
p.R89C
c.265C>T
1 paper
NM_000207.3
p.R89_G90insR
c.265_269ins3
1 paper
NM_000207.3
p.K88delFs
c.264delC
12 papers
NM_000207.3
p.R89L
c.266G>T
1 paper
NM_000207.3
p.R89insFs
c.265dupC
12 papers
NM_000207.3
p.R89P
c.266G>C
12 papers
NM_000207.3
p.R89H
c.266G>A
1 paper
NM_000207.3
p.Q87ins14
c.259_260ins42
1 paper
NM_000207.3
p.Q87fs
c.259_260fs
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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."