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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRAPPC13

Variant:p.H10L

TRAPPC13

5q12.3 (UCSC)OMIM GTEx

18 papers

Pfam Domains

TRAPPC13_Naa 10–168UCSCTrafficking protein particle complex subunit 13, N-terminal

TRAPPC13_Maa 172–301UCSCTrafficking protein particle complex subunit 13, middle domain

TRAPPC13_Caa 314–408UCSCTrafficking protein particle complex subunit 13, C-terminal

Gene Aliases

HGNC Name

trafficking protein particle complex subunit 13

HGNC Previous Symbol

C5orf44

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr5:65625089 A>T

NM_024941.4

p.H10L

c.29A>T

exact variant not in gnomAD82 overlapping SVs

Surrounding Variants

chr5:65625064 G>GA

NM_024941.4

p.E2insFs

c.6dupA

exact variant not in gnomAD82 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."