Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.H34Y

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
3 papers
NM_000207.3
p.H34Y
c.100C>T
Surrounding Variants
16 papers
NM_000207.3
p.H34D
c.100C>G
1 paper
NM_000207.3
p.H34_L35insCT
c.100_104ins6
1 paper
NM_000207.3
p.S33insFs
c.99dupA
1 paper
NM_000207.3
p.H34N
c.100C>A
2 papers
NM_000207.3
p.H34L
c.101A>T
1 paper
NM_000207.3
p.S33S
c.99A>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.99_100insC
1 paper
NM_000207.3
p.G32_S33ins0
c.96_98dupCTC
1 paper
NM_000207.3
p.S33_H34insFs
c.97_100dup4
2 papers
NM_000207.3
p.H34H
c.102C>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."