Varaico: Literature-Extracted Genetic Variants

Gene:IGF1
Variant:p.R119C

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.R119C
c.355C>T
Surrounding Variants
1 paper
NM_000618.5
p.R119H
c.356G>A
5 papers
NM_000618.5
p.A118T
c.352G>A
1 paper
NM_000618.5
p.V121D
c.362T>A
2 papers
NM_000618.5
p.R122H
c.365G>A
1 paper
NM_000618.5
p.A123T
c.367G>A
1 paper
NM_000618.5
p.A115T
c.343G>A
1 paper
NM_000618.5
p.V121_R122del2
c.361_365del6
4 papers
NM_000618.5
p.R125C
c.373C>T
1 paper
NM_000618.5
p.R125L
c.374G>T
1 paper
NM_000618.5
p.R125H
c.374G>A
1 paper
NM_000618.5
p.L112L
c.336C>T
2 papers
NM_000618.5
p.L112P
c.335T>C
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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."