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

1–12 of 539 variants

14 papers

NM_015335.5

p.E251G

c.752A>G

12 papers

NM_015335.5

p.W1359*

c.4076G>A

12 papers

NM_015335.5

p.R1872H

c.5615G>A

12 papers

NM_015335.5

p.D2023G

c.6068A>G

11 papers

NM_015335.5

p.D860G

c.2579A>G

11 papers

NM_015335.5

p.W1359*

c.4077G>A

10 papers

NM_015335.5

p.G1899R

c.5695G>C

10 papers

NM_015335.5

p.G1899R

c.5695G>A

8 papers

NM_015335.5

p.S570fs

c.1708_1709fs

8 papers

NM_015335.5

p.P866L

c.2597C>T

7 papers

NM_015335.5

p.S570delFs

c.1708_1709delCT

7 papers

NM_015335.5

p.T2162M

c.6485C>T