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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MED29

MED29

9 papers

RefSeq Summary

MED29 is a subunit of the Mediator complex, a multiprotein coactivator of RNA transcription that interacts with DNA-bound transcriptional activators, RNA polymerase II (see MIM 180660), and general in...

Pfam Domains

Med29aa 52–187UCSCMediator complex subunit 29

Gene Aliases

HGNC Name

mediator complex subunit 29

HGNC Previous Symbol

IXL

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr19:39391515 G>A

NM_017592.4

p.Q31Q

c.93G>A

exact variant not in gnomAD11 overlapping SVs

1 paper

chr19:39391589 C>T

NM_017592.4

p.P56L

c.167C>T

Med29

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=1, hom=0)10 overlapping SVs

1 paper

chr19:39392460 C>A

NM_017592.4

p.Q72_T73Splc

c.217-4C>A

exact variant not in gnomAD12 overlapping SVs

1 paper

chr19:39393573 T>C

NM_017592.4

p.I99T

c.296T>C

Med29

Exome: 0.0% (AC=50, hom=1)Genome: 0.0% (AC=4, hom=0)11 overlapping SVs

1 paper

chr19:39393630 T>C

NM_017592.4

p.L118P

c.353T>C

Med29

exact variant not in gnomAD11 overlapping SVs

1 paper

chr19:39397475 C>G

NM_017592.4

p.L127V

c.379C>G

Med29

exact variant not in gnomAD9 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."