Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.H29L

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.H29L
c.86A>T
Surrounding Variants
1 paper
NM_000207.3
p.H29Fs
c.86delinsCCFs
2 papers
NM_000207.3
p.H29Y
c.85C>T
17 papers
NM_000207.3
p.H29D
c.85C>G
2 papers
NM_000207.3
p.H29Q
c.87C>G
3 papers
NM_000207.3
p.H29Q
c.87C>A
1 paper
NM_000207.3
p.Q28del1
c.82_83delTTG
8 papers
NM_000207.3
p.L30V
c.88C>G
1 paper
NM_000207.3
p.L30_C31insC
c.88_92ins3
15 papers
NM_000207.3
p.L30M
c.88C>A
2 papers
NM_000207.3
p.Q28H
c.84A>T
2 papers
NM_000207.3
p.Q28Q
c.84A>G
2 papers
NM_000207.3
p.Q28H
c.84A>C
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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."