Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.R55S

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
5 papers
NM_000207.3
p.R55S
c.163C>A
Surrounding Variants
27 papers
NM_000207.3
p.R55C
c.163C>T
3 papers
NM_000207.3
p.R55H
c.164G>A
1 paper
NM_000207.3
p.P52_T54Fs
c.154_162delinsTCCTGTTFs
18 papers
NM_000207.3
p.T54I
c.161C>T
1 paper
NM_000207.3
p.R55R
c.165C>A
3 papers
NM_000207.3
p.R56W
c.166C>T
1 paper
NM_000207.3
p.K53_R55ins1
c.157_165dup9
3 papers
NM_000207.3
p.R56R
c.166C>A
2 papers
NM_000207.3
p.T54S
c.160A>T
2 papers
NM_000207.3
p.T54A
c.160A>G
1 paper
NM_000207.3
p.T54ins1
c.160_161insTGC
1 paper
NM_000207.3
p.R56L
c.167G>T
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."