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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RABIF

RABIF

9 papers

RefSeq Summary

This gene encodes a member of the SCE4/YPT1/RAB family of small GTP-binding proteins that are involved in the regulation of intracellular vesicular transport. This protein stimulates GTP-GDP exchange ...

Pfam Domains

Mss4aa 16–122UCSCMss4 protein

Gene Aliases

HGNC Name

RAB interacting factor

HGNC Previous Symbol

RASGRF3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr1:202889079 G>C

NM_002871.5

p.P7R

c.20C>G

Exome: 0.0% (AC=17, hom=0)Genome: 0.0% (AC=8, hom=0)154 overlapping SVs

1 paper

chr1:202889026 G>C

NM_002871.5

p.R25G

c.73C>G

Mss4

exact variant not in gnomAD154 overlapping SVs

1 paper

chr1:202889004 T>A

NM_002871.5

p.Q32L

c.95A>T

Mss4

exact variant not in gnomAD154 overlapping SVs

1 paper

chr1:202881129 A>G

NM_002871.5

p.M74T

c.221T>C

Mss4

Exome: 0.0% (AC=4, hom=0)Genome: 0.0% (AC=1, hom=0)154 overlapping SVs

1 paper

chr1:202881104 G>A

NM_002871.5

p.F82F

c.246C>T

Mss4

exact variant not in gnomAD154 overlapping SVs

1 paper

chr1:202881094 C>T

NM_002871.5

p.V86M

c.256G>A

Mss4

Exome: 0.0% (AC=7, hom=0)Genome: 0.0% (AC=4, hom=0)154 overlapping SVs

1 paper

chr1:202881068 G>C

NM_002871.5

p.C94W

c.282C>G

Mss4

exact variant not in gnomAD154 overlapping SVs

1 paper

chr1:202881067 C>G

NM_002871.5

p.A95P

c.283G>C

Mss4

exact variant not in gnomAD154 overlapping SVs

1 paper

chr1:202881067 C>T

NM_002871.5

p.A95T

c.283G>A

Mss4

Exome: 0.0% (AC=102, hom=0)Genome: 0.0% (AC=7, hom=0)154 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."