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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RIN3

Variant:p.E111K

RIN3

152 papers

RefSeq Summary

Summary: This protein encoded by this gene is a member of the RIN family of Ras interaction-interference proteins, which are binding partners to the RAB5 small GTPases. The protein functions as a guan...

Pfam Domains

RIN1aa 600–695UCSCRIN1-like domain

VPS9aa 739–842UCSCVacuolar sorting protein 9 (VPS9) domain

Gene Aliases

HGNC Name

Ras and Rab interactor 3

HGNC Alias Symbol

FLJ22439

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

3 papers

chr14:92577441 G>A

NM_024832.5

p.E111K

c.331G>A

Exome: 0.5% (AC=7519, hom=205)Genome: 0.6% (AC=937, hom=17)7 overlapping SVs

Surrounding Variants

1 paper

chr14:92577442 A>G

NM_024832.5

p.E111G

c.332A>G

Exome: n/aGenome: 0.0% (AC=1, hom=0)7 overlapping SVs

1 paper

chr14:92577439 C>T

NM_024832.5

p.A110V

c.329C>T

exact variant not in gnomAD7 overlapping SVs

1 paper

chr14:92577450 G>A

NM_024832.5

p.E114K

c.340G>A

Exome: 0.0% (AC=35, hom=0)Genome: 0.0% (AC=13, hom=0)7 overlapping SVs

1 paper

chr14:92577450 G>C

NM_024832.5

p.E114Q

c.340G>C

exact variant not in gnomAD7 overlapping SVs

1 paper

chr14:92577429 G>A

NM_024832.5

p.E107K

c.319G>A

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=2, hom=0)7 overlapping SVs

1 paper

chr14:92577388 C>T

NM_024832.5

p.S93L

c.278C>T

Exome: 0.0% (AC=77, hom=1)Genome: 0.0% (AC=6, hom=0)7 overlapping SVs

1 paper

chr14:92577376 G>T

NM_024832.5

p.R89L

c.266G>T

exact variant not in gnomAD7 overlapping SVs

4 papers

chr14:92577375 C>T

NM_024832.5

p.R89W

c.265C>T

Exome: 0.1% (AC=997, hom=6)Genome: 0.2% (AC=321, hom=3)7 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."