Varaico: Literature-Extracted Genetic Variants

Gene:IGF1
Variant:p.S45C

IGF1

683 papers

RefSeq Summary

The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed ...

Pfam Domains

Insulinaa 51–109UCSCInsulin/IGF/Relaxin family

Gene Aliases

HGNC Name

insulin like growth factor 1

HGNC Alias Symbols

IGF1A; IGFI; IGF-I

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000618.5
p.S45C
c.134C>G
Surrounding Variants
2 papers
NM_000618.5
p.S45F
c.134C>T
1 paper
NM_000618.5
p.S45Y
c.134C>A
1 paper
NM_000618.5
p.T43_S44insFs
c.129_130insC
1 paper
NM_000618.5
p.T47K
c.140C>A
1 paper
NM_000618.5
p.T47T
c.141G>A
1 paper
NM_000618.5
p.T43P
c.127A>C
1 paper
NM_000618.5
p.A48S
c.142G>T
1 paper
NM_000618.5
p.A48delFs
c.143delG
1 paper
NM_000618.5
p.T41delFs
c.122delG
1 paper
NM_000618.5
p.T41I
c.122C>T
1 paper
NM_000618.5
p.T41A
c.121A>G
1 paper
NM_000618.5
p.P50L
c.149C>T
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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."