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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RFTN2

Variant:p.P400P

RFTN2

2q33.1 (UCSC)OMIM GTEx

42 papers

Pfam Domains

Raftlinaa 1–440UCSCRaftlin

Gene Aliases

HGNC Name

raftlin family member 2

HGNC Previous Symbol

C2orf11

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr2:197596024 T>G

NM_144629.3

p.P400P

c.1200A>C

Exome: 0.7% (AC=9853, hom=34)Genome: 0.4% (AC=659, hom=3)130 overlapping SVs

Surrounding Variants

chr2:197595995 G>A

NM_144629.3

p.P410L

c.1229C>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a130 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."