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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TANGO6

Variant:p.P30S

TANGO6

16q22.1 (UCSC)OMIM GTEx

47 papers

Pfam Domains

TANGO6_Naa 13–312UCSCTANGO6 N-terminal domain

ARM_TANGO6aa 313–588UCSCTransport and Golgi organization protein 6 homolog, ARM-like repeat

RTP1_C1aa 839–950UCSCRequired for nuclear transport of RNA pol II C-terminus 1

RTP1_C2aa 1041–1074UCSCRequired for nuclear transport of RNA pol II C-terminus 2

Gene Aliases

HGNC Name

transport and golgi organization 6 homolog

HGNC Previous Symbol

TMCO7

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr16:68843705 C>T

NM_024562.2

p.P30S

c.88C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a13 overlapping SVs

Surrounding Variants

chr16:68843631 A>G

NM_024562.2

p.Q5R

c.14A>G

Exome: 0.0% (AC=40, hom=1)Genome: 0.0% (AC=4, hom=0)13 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."