Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.F49L

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
12 papers
NM_000207.3
p.F49L
c.145T>C
Surrounding Variants
6 papers
NM_000207.3
p.F49S
c.146T>C
1 paper
NM_000207.3
p.G47_F48ins0
c.140_142dupGCT
1 paper
NM_000207.3
p.F48ins6
c.143_144ins18
21 papers
NM_000207.3
p.F48C
c.143T>G
11 papers
NM_000207.3
p.F48S
c.143T>C
1 paper
NM_000207.3
p.F48Y
c.143T>A
12 papers
NM_000207.3
p.F49L
c.147C>G
12 papers
NM_000207.3
p.F49L
c.147C>A
1 paper
NM_000207.3
p.Y50insFs
c.148_149insG
1 paper
NM_000207.3
p.G47insFs
c.141dupC
1 paper
NM_000207.3
p.Y50_T51insT
c.148_152ins3
1 paper
NM_000207.3
p.F48_F49insA
c.142_146ins3
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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."