Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.H34H

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
2 papers
NM_000207.3
p.H34H
c.102C>T
Surrounding Variants
1 paper
NM_000207.3
p.H34ins2
c.101_102ins6
2 papers
NM_000207.3
p.L35V
c.103C>G
1 paper
NM_000207.3
p.L35_V36insA
c.103_107ins3
3 papers
NM_000207.3
p.L35M
c.103C>A
2 papers
NM_000207.3
p.H34L
c.101A>T
3 papers
NM_000207.3
p.H34R
c.101A>G
4 papers
NM_000207.3
p.H34P
c.101A>C
1 paper
NM_000207.3
p.S33_H34insFs
c.97_100dup4
18 papers
NM_000207.3
p.L35P
c.104T>C
4 papers
NM_000207.3
p.L35Q
c.104T>A
3 papers
NM_000207.3
p.H34Y
c.100C>T
16 papers
NM_000207.3
p.H34D
c.100C>G
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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."