Varaico: Literature-Extracted Genetic Variants

MED13L

293 papers

RefSeq Summary

The protein encoded by this gene is a subunit of the Mediator complex, a large complex of proteins that functions as a transcriptional coactivator for most RNA polymerase II-transcribed genes. The enc...

Pfam Domains

Med13_Naa 11–257UCSCMediator complex subunit 13 N-terminal

MID_MedPIWIaa 1416–1760UCSCMID domain of medPIWI

Med13_Caa 1796–2199UCSCMediator complex subunit 13 C-terminal domain

Gene Aliases

HGNC Name

mediator complex subunit 13L

HGNC Previous Symbol

THRAP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015335.5

p.T857Splc

c.2570-7T>C

Surrounding Variants

11 papers

NM_015335.5

p.D860G

c.2579A>G

2 papers

NM_015335.5

p.T857_D860del0

c.2570_2578del9

2 papers

NM_015335.5

p.M864L

c.2590A>T

2 papers

NM_015335.5

p.M864L

c.2590A>C

2 papers

NM_015335.5

p.M864K

c.2591T>A

3 papers

NM_015335.5

p.P866A

c.2596C>G

8 papers

NM_015335.5

p.P866L

c.2597C>T

1 paper

NM_015335.5

p.T867I

c.2600C>T

1 paper

NM_015335.5

p.P868A

c.2602C>G

4 papers

NM_015335.5

p.P869S

c.2605C>T

1 paper

NM_015335.5

p.P869A

c.2605C>G

1 paper

NM_015335.5

p.P869T

c.2605C>A