Varaico: Literature-Extracted Genetic Variants

Gene:IGF1
Variant:p.K134_E135Splc

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
6 papers
NM_000618.5
p.K134_E135Splc
c.402+1G>C
Surrounding Variants
1 paper
NM_000618.5
p.K134_E135Splc
c.402+1G>T
4 papers
NM_000618.5
p.K134_E135Splc
c.402+1G>A
2 papers
NM_000618.5
p.K134_E135Splc
c.402+2T>C
1 paper
NM_000618.5
p.K134_E135insFs
c.402_403insC
1 paper
NM_000618.5
p.K134delFs
c.400delT
1 paper
NM_000618.5
p.K134R
c.401A>G
1 paper
NM_000618.5
p.Q133*
c.397C>T
1 paper
NM_000618.5
p.K131_T132insFs
c.393_394insT
1 paper
NM_000618.5
p.M129I
c.387G>A
1 paper
NM_000618.5
p.M129K
c.386T>A
1 paper
NM_000618.5
p.M129V
c.385A>G
1 paper
NM_000618.5
p.M129_P130insC
c.385_389ins3
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