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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TCEA1

Variant:p.L41P

TCEA1

8q11.23 (UCSC)OMIM GTEx

103 papers

Pfam Domains

Med26aa 26–77UCSCTFIIS helical bundle-like domain

TFIIS_Maa 136–248UCSCTranscription factor S-II (TFIIS), central domain

Zn_ribbon_TFIISaa 261–299UCSCTranscription factor S-II (TFIIS)

Gene Aliases

HGNC Name

transcription elongation factor A1

HGNC Previous Symbol

GTF2S

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr8:54010434 A>G

NM_006756.4

p.L41P

c.122T>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a23 overlapping SVs

Surrounding Variants

chr8:54005394 T>C

NM_006756.4

p.Q42_S43Splc

c.127-5344A>G

Exome: n/aGenome: 0.0% (AC=1, hom=0)23 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."