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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLTB

Variant:p.E109D

CLTB

21 papers

RefSeq Summary

Clathrin is a large, soluble protein composed of heavy and light chains. It functions as the main structural component of the lattice-type cytoplasmic face of coated pits and vesicles which entrap spe...

Pfam Domains

Clathrin_lg_chaa 2–122UCSCClathrin light chain

Clathrin_lg_chaa 2–229UCSCClathrin light chain

Gene Aliases

HGNC Name

clathrin light chain B

HGNC Alias Symbol

Lcb

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr5:176397955 C>A

NM_007097.5

p.E109D

c.327G>T

Clathrin_lg_ch

exact variant not in gnomAD15 overlapping SVs

Surrounding Variants

1 paper

chr5:176397955 C>G

NM_007097.5

p.E109D

c.327G>C

Clathrin_lg_ch

exact variant not in gnomAD15 overlapping SVs

1 paper

chr5:176397686 G>A

NM_007097.5

p.R129W

c.385C>T

Clathrin_lg_ch

Exome: 0.0% (AC=11, hom=0)Genome: n/a15 overlapping SVs

1 paper

chr5:176397631 A>T

NM_007097.5

p.V147E

c.440T>A

Clathrin_lg_ch

exact variant not in gnomAD15 overlapping SVs

1 paper

chr5:176397614 T>C

NM_007097.5

p.N153D

c.457A>G

Clathrin_lg_ch

Exome: 0.0% (AC=125, hom=0)Genome: 0.0% (AC=16, hom=0)15 overlapping SVs

1 paper

chr5:176396533 C>T

NM_007097.5

p.R155Q

c.464G>A

exact variant not in gnomAD15 overlapping SVs

1 paper

chr5:176392915 G>A

NM_007097.5

p.S183S

c.549C>T

Clathrin_lg_ch

Exome: 0.2% (AC=3246, hom=4)Genome: 0.2% (AC=233, hom=0)14 overlapping SVs

1 paper

chr5:176392790 G>A

NM_007097.5

p.T225M

c.674C>T

Clathrin_lg_ch

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=1, hom=0)14 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."