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

8 papers

NM_015335.5

p.S570fs

c.1708_1709fs

Surrounding Variants

1 paper

NM_015335.5

p.S570fs

c.1708_1709fs

7 papers

NM_015335.5

p.S570delFs

c.1708_1709delCT

1 paper

NM_015335.5

p.S570del1

c.1708_1709delACT

3 papers

NM_015335.5

p.R564*

c.1690C>T

1 paper

NM_015335.5

p.L559insFs

c.1676dupT

1 paper

NM_015335.5

p.A581fs

c.1741_1742fs

1 paper

NM_015335.5

p.L582fs

c.1744_1745fs

2 papers

NM_015335.5

p.A581delFs

c.1743delG

1 paper

NM_015335.5

p.S553fs

c.1657_1658fs

1 paper

NM_015335.5

p.S553insFs

c.1657_1658ins4

1 paper

NM_015335.5

p.L587V

c.1759C>G

1 paper

NM_015335.5

p.Q590*

c.1768C>T