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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CEP41

Variant:p.S2F

CEP41

69 papers

RefSeq Summary

This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localiz...

Pfam Domains

Rhodaneseaa 160–260UCSCRhodanese-like domain

Gene Aliases

HGNC Name

centrosomal protein 41

HGNC Previous Symbol

TSGA14

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

2 papers

chr7:130440962 G>A

NM_018718.3

p.S2F

c.5C>T

Exome: 0.0% (AC=178, hom=5)Genome: 0.0% (AC=17, hom=0)59 overlapping SVs

Surrounding Variants

1 paper

chr7:130440959 A>C

NM_018718.3

p.L3R

c.8T>G

exact variant not in gnomAD59 overlapping SVs

1 paper

chr7:130440939 G>C

NM_018718.3

p.P10A

c.28C>G

Exome: 0.0% (AC=15, hom=0)Genome: 0.0% (AC=3, hom=0)59 overlapping SVs

3 papers

chr7:130440932 A>C

NM_018718.3

p.E11_Y12Splc

c.33+2T>G

exact variant not in gnomAD59 overlapping SVs

1 paper

chr7:130440930 T>C

NM_018718.3

p.E11_Y12Splc

c.33+4A>G

exact variant not in gnomAD59 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."