Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MED19

MED19

15 papers

RefSeq Summary

The protein encoded by this gene is a subunit of the Mediator complex, which binds to gene-specific regulatory factors and provides support for the basal RNA polymerase II transcription machinery. Thi...

Pfam Domains

Med19aa 63–234UCSCMediator of RNA pol II transcription subunit 19

Gene Aliases

HGNC Name

mediator complex subunit 19

HGNC Alias Symbol

LCMR1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr11:57705108 TGGCAGGTCA>T

NM_001317078.4

p.P110_P113del0

c.330_338del9

Med19

exact variant not in gnomAD33 overlapping SVs

1 paper

chr11:57704784 T>A

NM_001317078.4

p.Q169L

c.506A>T

Med19

exact variant not in gnomAD34 overlapping SVs

1 paper

chr11:57704774 C>A

NM_001317078.4

p.K172N

c.516G>T

Med19

exact variant not in gnomAD34 overlapping SVs

1 paper

chr11:57704774 C>G

NM_001317078.4

p.K172N

c.516G>C

Med19

exact variant not in gnomAD34 overlapping SVs

1 paper

chr11:57704761 G>T

NM_001317078.4

p.H177N

c.529C>A

Med19

Exome: 0.0% (AC=0, hom=0)Genome: n/a34 overlapping SVs

1 paper

chr11:57704739 G>T

NM_001317078.4

p.T184N

c.551C>A

Med19

exact variant not in gnomAD34 overlapping SVs

1 paper

chr11:57704046 GGCT>G

NM_001317078.4

p.S242del1

c.724_725delGCT

Exome: 0.0% (AC=22, hom=0)Genome: 0.0% (AC=0, hom=0)33 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."