Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.R6H

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.R6H
c.17G>A
Surrounding Variants
1 paper
NM_000207.3
p.R6insFs
c.16dupC
1 paper
NM_000207.3
p.R6delFs
c.16delG
32 papers
NM_000207.3
p.R6C
c.16C>T
2 papers
NM_000207.3
p.R6R
c.18C>T
1 paper
NM_000207.3
p.R6R
c.18C>G
1 paper
NM_000207.3
p.R6G
c.16C>G
2 papers
NM_000207.3
p.M5insFs
c.15dupG
1 paper
NM_000207.3
p.R6insFs
c.17dupG
1 paper
NM_000207.3
p.R6_L7ins1
c.18_19insGCG
1 paper
NM_000207.3
p.R6_L7insFs
c.18_19insA
1 paper
NM_000207.3
p.R6S
c.16C>A
1 paper
NM_000207.3
p.M5I
c.15G>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."