Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.L77R

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.L77R
c.230T>G
Surrounding Variants
1 paper
NM_000207.3
p.S76insFs
c.228dupC
1 paper
NM_000207.3
p.L77fs
c.229_230fs
1 paper
NM_000207.3
p.L77V
c.229C>G
1 paper
NM_000207.3
p.Q78*
c.232C>T
1 paper
NM_000207.3
p.S76S
c.228C>T
3 papers
NM_000207.3
p.Q78E
c.232C>G
1 paper
NM_000207.3
p.S76_L77insFs
c.228_229insT
1 paper
NM_000207.3
p.S76I
c.227G>T
1 paper
NM_000207.3
p.S76insFs
c.226_227insA
1 paper
NM_000207.3
p.G75_S76ins6
c.225_226ins18
3 papers
NM_000207.3
p.S76N
c.227G>A
1 paper
NM_000207.3
p.Q78L
c.233A>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."