Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.T54A

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.T54A
c.160A>G
Surrounding Variants
2 papers
NM_000207.3
p.T54S
c.160A>T
1 paper
NM_000207.3
p.T54ins1
c.160_161insTGC
1 paper
NM_000207.3
p.K53N
c.159G>C
1 paper
NM_000207.3
p.K53delFs
c.158delT
18 papers
NM_000207.3
p.T54I
c.161C>T
1 paper
NM_000207.3
p.P52_T54Fs
c.154_162delinsTCCTGTTFs
1 paper
NM_000207.3
p.K53R
c.158A>G
1 paper
NM_000207.3
p.K53T
c.158A>C
27 papers
NM_000207.3
p.R55C
c.163C>T
5 papers
NM_000207.3
p.R55S
c.163C>A
1 paper
NM_000207.3
p.K53*
c.157A>T
1 paper
NM_000207.3
p.K53_T54insC
c.157_161ins3
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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."