Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.V63Splc

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.V63Splc
c.188-1G>A
Surrounding Variants
1 paper
NM_000207.3
p.V63Splc
c.188-1G>C
1 paper
NM_000207.3
p.V63fs
c.187_188fs
2 papers
NM_000207.3
p.V63Splc
c.188-2A>G
1 paper
NM_000207.3
p.V63insFs
c.188_189insTA
1 paper
NM_000207.3
p.V63V
c.189G>A
1 paper
NM_000207.3
p.G64R
c.190G>A
1 paper
NM_000207.3
p.G64V
c.191G>T
1 paper
NM_000207.3
p.G64A
c.191G>C
3 papers
NM_000207.3
p.G64E
c.191G>A
1 paper
NM_000207.3
p.G64fs
c.190_191fs
1 paper
NM_000207.3
p.Q65*
c.193C>T
1 paper
NM_000207.3
p.Q65L
c.194A>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."