Varaico: Literature-Extracted Genetic Variants

Gene:IGF1
Variant:p.G78E

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.G78E
c.233G>A
Surrounding Variants
1 paper
NM_000618.5
p.Y79C
c.236A>G
1 paper
NM_000618.5
p.G80S
c.238G>A
1 paper
NM_000618.5
p.P76P
c.228C>T
2 papers
NM_000618.5
p.S81F
c.242C>T
2 papers
NM_000618.5
p.K75R
c.224A>G
1 paper
NM_000618.5
p.S81S
c.243C>G
6 papers
NM_000618.5
p.N74fs
c.220_221fs
2 papers
NM_000618.5
p.N74Splc
c.221-1G>C
1 paper
NM_000618.5
p.G80_S82delFs
c.239_245del7
3 papers
NM_000618.5
p.S83fs
c.247_248fs
1 paper
NM_000618.5
p.S83C
c.247A>T
1 paper
NM_000618.5
p.N74Splc
c.221-2A>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."