Varaico: Literature-Extracted Genetic Variants

Gene:IGF1
Variant:p.T52M

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.T52M
c.155C>T
Surrounding Variants
1 paper
NM_000618.5
p.T52insFs
c.156dupG
1 paper
NM_000618.5
p.L53fs
c.157_158fs
1 paper
NM_000618.5
p.E51*
c.151G>T
1 paper
NM_000618.5
p.L53delFs
c.158delA
2 papers
NM_000618.5
p.C54Y
c.161G>A
1 paper
NM_000618.5
p.P50L
c.149C>T
1 paper
NM_000618.5
p.G55R
c.163G>A
1 paper
NM_000618.5
p.A46_C54del0
c.138_161del24
1 paper
NM_000618.5
p.A48delFs
c.143delG
1 paper
NM_000618.5
p.A56D
c.167C>A
1 paper
NM_000618.5
p.A56A
c.168T>C
1 paper
NM_000618.5
p.A48S
c.142G>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."