Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.E57E

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
2 papers
NM_000207.3
p.E57E
c.171G>A
Surrounding Variants
1 paper
NM_000207.3
p.A58T
c.172G>A
2 papers
NM_000207.3
p.E57_A58insQ
c.169_173ins3
1 paper
NM_000207.3
p.E57K
c.169G>A
1 paper
NM_000207.3
p.A58V
c.173C>T
1 paper
NM_000207.3
p.A58G
c.173C>G
1 paper
NM_000207.3
p.A58insFs
c.172_173ins7
1 paper
NM_000207.3
p.E57delFs
c.171delC
1 paper
NM_000207.3
p.A58A
c.174A>G
1 paper
NM_000207.3
p.A58insFs
c.173_174insCC
1 paper
NM_000207.3
p.E59*
c.175G>T
1 paper
NM_000207.3
p.R56L
c.167G>T
1 paper
NM_000207.3
p.R55_R56insFs
c.163_166dup4
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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."