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.M545fs

c.1633_1634fs

Surrounding Variants

1 paper

NM_015335.5

p.M545delFs

c.1634delA

1 paper

NM_015335.5

p.P544L

c.1631C>T

1 paper

NM_015335.5

p.P544insFs

c.1631_1632insA

1 paper

NM_015335.5

p.P544T

c.1630C>A

1 paper

NM_015335.5

p.S547L

c.1640C>T

1 paper

NM_015335.5

p.S553insFs

c.1657_1658ins4

1 paper

NM_015335.5

p.S553fs

c.1657_1658fs

1 paper

NM_015335.5

p.L559insFs

c.1676dupT

3 papers

NM_015335.5

p.R564*

c.1690C>T

1 paper

NM_015335.5

p.R523S

c.1569G>T

1 paper

NM_015335.5

p.R523S

c.1569G>C

1 paper

NM_015335.5

p.S521S

c.1563C>T