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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:C4orf46

C4orf46

4q32.1 (UCSC)OMIM GTEx

3 papers

RefSeq Summary

This gene encodes a small, conserved protein of unknown function that is expressed in a variety of tissues. There are pseudogenes for this gene on chromosomes 6, 8, 16, and X. Alternative splicing res...

Pfam Domains

RCDG1aa 5–87UCSCRenal cancer differentiation gene 1 protein

Gene Aliases

HGNC Name

chromosome 4 open reading frame 46

HGNC Alias Symbols

LOC201725; RCDG1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr4:158671723 C>T

NM_001008393.4

p.A27T

c.79G>A

Exome: 0.1% (AC=1428, hom=1)Genome: 0.1% (AC=162, hom=3)65 overlapping SVs

chr4:158669704 A>G

NM_001008393.4

p.L84P

c.251T>C

exact variant not in gnomAD66 overlapping SVs

chr4:158669636 C>T

NM_001008393.4

p.D107N

c.319G>A

exact variant not in gnomAD66 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."