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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IGFL3

IGFL3

9 papers

RefSeq Summary

IGFL3 belongs to the insulin-like growth factor (IGF; see MIM 147440) family of signaling molecules that play critical roles in cellular energy metabolism and in growth and development, especially pre...

Pfam Domains

IGFLaa 33–115UCSCInsulin growth factor-like family

Gene Aliases

HGNC Name

IGF like family member 3

HGNC Alias Symbol

UNQ483

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr19:46124043 C>T

NM_207393.2

p.E65K

c.193G>A

IGFL

Exome: 0.0% (AC=2, hom=0)Genome: n/a12 overlapping SVs

1 paper

chr19:46124040 T>A

NM_207393.2

p.T66S

c.196A>T

IGFL

exact variant not in gnomAD12 overlapping SVs

1 paper

chr19:46124040 T>G

NM_207393.2

p.T66P

c.196A>C

IGFL

Exome: 0.0% (AC=57, hom=0)Genome: 0.0% (AC=3, hom=0)12 overlapping SVs

1 paper

chr19:46124039 G>C

NM_207393.2

p.T66S

c.197C>G

IGFL

Exome: 0.2% (AC=3420, hom=337)Genome: 2.2% (AC=3377, hom=284)12 overlapping SVs

1 paper

chr19:46124037 G>A

NM_207393.2

p.R67C

c.199C>T

IGFL

Exome: 0.1% (AC=1685, hom=28)Genome: 0.1% (AC=137, hom=1)12 overlapping SVs

1 paper

chr19:46124007 G>C

NM_207393.2

p.P77A

c.229C>G

IGFL

Exome: 0.0% (AC=2, hom=0)Genome: n/a12 overlapping SVs

1 paper

chr19:46123966 C>CN

NM_207393.2

p.Q90fs

c.268_269fs

IGFL

exact variant not in gnomAD12 overlapping SVs

1 paper

chr19:46123889 G>A

NM_207393.2

p.T116I

c.347C>T

exact variant not in gnomAD12 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."