Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.Q78*

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.Q78*
c.232C>T
Surrounding Variants
3 papers
NM_000207.3
p.Q78E
c.232C>G
1 paper
NM_000207.3
p.L77fs
c.229_230fs
1 paper
NM_000207.3
p.Q78L
c.233A>T
1 paper
NM_000207.3
p.Q78R
c.233A>G
1 paper
NM_000207.3
p.S76insFs
c.228dupC
1 paper
NM_000207.3
p.L77R
c.230T>G
2 papers
NM_000207.3
p.Q78H
c.234G>T
5 papers
NM_000207.3
p.Q78fs
c.232_233fs
1 paper
NM_000207.3
p.Q78H
c.234G>C
1 paper
NM_000207.3
p.Q78Q
c.234G>A
5 papers
NM_000207.3
p.Q78delFs
c.233delT
1 paper
NM_000207.3
p.L77V
c.229C>G
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