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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:INSL3

INSL3

83 papers

RefSeq Summary

This gene encodes a member of the insulin-like hormone superfamily. The encoded protein is mainly produced in gonadal tissues. Studies of the mouse counterpart suggest that this gene may be involved i...

Pfam Domains

Insulinaa 31–129UCSCInsulin/IGF/Relaxin family

Gene Aliases

HGNC Name

insulin like 3

HGNC Previous Symbol

RLNL

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 67 variants

16 papers

chr19:17816945 C>T

NM_005543.4

p.R102H

c.305G>A

Insulin

Exome: 0.1% (AC=745, hom=6)Genome: 0.0% (AC=47, hom=0)16 overlapping SVs

14 papers

chr19:17816972 G>A

NM_005543.4

p.P93L

c.278C>T

Insulin

Exome: 0.0% (AC=714, hom=1)Genome: 0.0% (AC=50, hom=0)16 overlapping SVs

13 papers

chr19:17816946 G>A

NM_005543.4

p.R102C

c.304C>T

Insulin

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=3, hom=0)16 overlapping SVs

12 papers

chr19:17821362 G>A

NM_005543.4

p.P49S

c.145C>T

Insulin

Exome: 0.0% (AC=250, hom=0)Genome: 0.0% (AC=11, hom=0)13 overlapping SVs

10 papers

chr19:17817033 G>A

NM_005543.4

p.R73*

c.217C>T

Insulin

Exome: 0.0% (AC=20, hom=0)Genome: 0.0% (AC=1, hom=0)16 overlapping SVs

9 papers

chr19:17821455 C>T

NM_005543.4

p.V18M

c.52G>A

Exome: 0.0% (AC=441, hom=4)Genome: 0.4% (AC=550, hom=4)12 overlapping SVs

9 papers

chr19:17821329 T>C

NM_005543.4

p.T60A

c.178A>G

Insulin

Exome: 64.8% (AC=903435, hom=293764)Genome: 69.4% (AC=105696, hom=37213)13 overlapping SVs

7 papers

chr19:17816936 C>T

NM_005543.4

p.R105H

c.314G>A

Insulin

Exome: 0.0% (AC=57, hom=0)Genome: 0.0% (AC=6, hom=0)16 overlapping SVs

7 papers

chr19:17816920 G>C

NM_005543.4

p.N110K

c.330C>G

Insulin

Exome: 0.0% (AC=1, hom=0)Genome: n/a16 overlapping SVs

7 papers

chr19:17816920 G>T

NM_005543.4

p.N110K

c.330C>A

Insulin

exact variant not in gnomAD16 overlapping SVs

6 papers

chr19:17821480 C>T

NM_005543.4

p.A9A

c.27G>A

Exome: 6.0% (AC=81883, hom=3592)Genome: 7.5% (AC=11428, hom=565)12 overlapping SVs

6 papers

chr19:17817045 A>G

NM_005543.4

p.W69R

c.205T>C

Insulin

Exome: 0.0% (AC=221, hom=0)Genome: 0.0% (AC=35, hom=0)16 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."