Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.Y50H

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.Y50H
c.148T>C
Surrounding Variants
1 paper
NM_000207.3
p.Y50insFs
c.148_149insG
1 paper
NM_000207.3
p.Y50_T51insT
c.148_152ins3
1 paper
NM_000207.3
p.Y50_T51ins6
c.148_152ins18
12 papers
NM_000207.3
p.F49L
c.147C>G
12 papers
NM_000207.3
p.F49L
c.147C>A
2 papers
NM_000207.3
p.Y50F
c.149A>T
6 papers
NM_000207.3
p.Y50C
c.149A>G
6 papers
NM_000207.3
p.F49S
c.146T>C
1 paper
NM_000207.3
p.Y50Y
c.150C>T
2 papers
NM_000207.3
p.Y50*
c.150C>G
1 paper
NM_000207.3
p.Y50_T51insFs
c.150_151insG
1 paper
NM_000207.3
p.Y50insFs
c.148_149dupTA
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."