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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RIN2

Variant:p.D39D

RIN2

71 papers

RefSeq Summary

The RAB5 protein is a small GTPase involved in membrane trafficking in the early endocytic pathway. The protein encoded by this gene binds the GTP-bound form of the RAB5 protein preferentially over th...

Pfam Domains

RIN1aa 513–607UCSCRIN1-like domain

VPS9aa 651–753UCSCVacuolar sorting protein 9 (VPS9) domain

RAaa 787–878UCSCRas association (RalGDS/AF-6) domain

Gene Aliases

HGNC Name

Ras and Rab interactor 2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr20:19935158 T>C

NM_018993.4

p.D39D

c.117T>C

Exome: 0.0% (AC=16, hom=0)Genome: n/a10 overlapping SVs

Surrounding Variants

1 paper

chr20:19935168 GA>G

NM_018993.4

p.N44delFs

c.130delA

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

1 paper

chr20:19935141 G>GA

NM_018993.4

p.E34insFs

c.100_101insA

exact variant not in gnomAD10 overlapping SVs

1 paper

chr20:19935126 G>A

NM_018993.4

p.G29R

c.85G>A

Exome: 1.4% (AC=20439, hom=178)Genome: 1.2% (AC=1823, hom=28)10 overlapping SVs

1 paper

chr20:19935126 G>C

NM_018993.4

p.G29R

c.85G>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a10 overlapping SVs

1 paper

chr20:19935119 G>GC

NM_018993.4

p.S26_E27insFs

c.78_79insC

exact variant not in gnomAD10 overlapping SVs

1 paper

chr20:19935198 A>G

NM_018993.4

p.S53G

c.157A>G

Exome: 0.0% (AC=0, hom=0)Genome: n/a10 overlapping SVs

2 papers

chr20:19935118 C>T

NM_018993.4

p.S26L

c.77C>T

Exome: 0.0% (AC=216, hom=1)Genome: 0.0% (AC=12, hom=0)10 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."