Varaico: Literature-Extracted Genetic Variants

Gene:IGF1
Variant:p.E57D

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.E57D
c.171G>T
Surrounding Variants
1 paper
NM_000618.5
p.A56A
c.168T>C
5 papers
NM_000618.5
p.L58L
c.174G>C
1 paper
NM_000618.5
p.V59M
c.175G>A
1 paper
NM_000618.5
p.A56D
c.167C>A
1 paper
NM_000618.5
p.V59V
c.177G>C
1 paper
NM_000618.5
p.D60N
c.178G>A
1 paper
NM_000618.5
p.G55R
c.163G>A
1 paper
NM_000618.5
p.A46_C54del0
c.138_161del24
2 papers
NM_000618.5
p.C54Y
c.161G>A
1 paper
NM_000618.5
p.A61T
c.181G>A
1 paper
NM_000618.5
p.L53delFs
c.158delA
1 paper
NM_000618.5
p.L62insFs
c.185_186insG
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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."