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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IGFL1

IGFL1

13 papers

RefSeq Summary

The protein encoded by this gene is a member of the insulin-like growth factor family of signaling molecules. The encoded protein is synthesized as a precursor protein and is proteolytically cleaved t...

Pfam Domains

IGFLaa 33–106UCSCInsulin growth factor-like family

Gene Aliases

HGNC Name

IGF like family member 1

HGNC Alias Symbol

UNQ644

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

3 papers

chr19:46230303 T>G

NM_198541.2

p.C37G

c.109T>G

IGFL

Exome: 0.6% (AC=9213, hom=45)Genome: 0.6% (AC=896, hom=5)14 overlapping SVs

3 papers

chr19:46230514 G>A

NM_198541.2

p.R107H

c.320G>A

Exome: 0.0% (AC=71, hom=0)Genome: 0.0% (AC=13, hom=0)13 overlapping SVs

1 paper

chr19:46230117 C>T

NM_198541.2

p.A12V

c.35C>T

Exome: 0.0% (AC=3, hom=0)Genome: n/a14 overlapping SVs

1 paper

chr19:46230152 G>A

NM_198541.2

p.G24R

c.70G>A

Exome: 7.2% (AC=104589, hom=3977)Genome: 7.4% (AC=11262, hom=442)14 overlapping SVs

1 paper

chr19:46230152 G>C

NM_198541.2

p.G24R

c.70G>C

exact variant not in gnomAD14 overlapping SVs

1 paper

chr19:46230162 G>A

NM_198541.2

p.V27Splc

c.79+1G>A

Exome: 0.0% (AC=3, hom=0)Genome: n/a14 overlapping SVs

1 paper

chr19:46230402 G>A

NM_198541.2

p.G70R

c.208G>A

IGFL

Exome: 0.0% (AC=1, hom=0)Genome: n/a14 overlapping SVs

1 paper

chr19:46230402 G>C

NM_198541.2

p.G70R

c.208G>C

IGFL

exact variant not in gnomAD14 overlapping SVs

1 paper

chr19:46230453 A>C

NM_198541.2

p.M87L

c.259A>C

IGFL

exact variant not in gnomAD14 overlapping SVs

1 paper

chr19:46230453 A>T

NM_198541.2

p.M87L

c.259A>T

IGFL

exact variant not in gnomAD14 overlapping SVs

1 paper

chr19:46230471 C>T

NM_198541.2

p.Q93*

c.277C>T

IGFL

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=3, hom=0)14 overlapping SVs

1 paper

chr19:46230496 C>T

NM_198541.2

p.S101L

c.302C>T

IGFL

Exome: 0.0% (AC=34, hom=0)Genome: 0.0% (AC=1, hom=0)13 overlapping SVs

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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."