Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.A38S

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.A38S
c.112G>T
Surrounding Variants
1 paper
NM_000207.3
p.A38insFs
c.112_113ins38
1 paper
NM_000207.3
p.A38_L39ins4
c.112_116ins12
1 paper
NM_000207.3
p.A38_L39ins9
c.112_116ins27
1 paper
NM_000207.3
p.A38_L39ins15
c.112_116ins45
1 paper
NM_000207.3
p.A38insFs
c.112_113ins38
1 paper
NM_000207.3
p.A38insFs
c.112_113ins41
1 paper
NM_000207.3
p.A38P
c.112G>C
2 papers
NM_000207.3
p.A38V
c.113C>T
1 paper
NM_000207.3
p.A38G
c.113C>G
1 paper
NM_000207.3
p.A38insFs
c.113_114insA
1 paper
NM_000207.3
p.A38insFs
c.113_114ins4
1 paper
NM_000207.3
p.A38delFs
c.112delC
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