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.S635insFs

c.1903dupA

Surrounding Variants

1 paper

NM_015335.5

p.S635fs

c.1903_1904fs

1 paper

NM_015335.5

p.S635G

c.1903A>G

1 paper

NM_015335.5

p.W633*

c.1899G>A

1 paper

NM_015335.5

p.W633*

c.1898G>A

2 papers

NM_015335.5

p.P626L

c.1877C>T

1 paper

NM_015335.5

p.P648delFs

c.1944delA

1 paper

NM_015335.5

p.G620fs

c.1858_1859fs

1 paper

NM_015335.5

p.L651F

c.1951C>T

1 paper

NM_015335.5

p.E654delFs

c.1962delC

1 paper

NM_015335.5

p.R655K

c.1964G>A

3 papers

NM_015335.5

p.E665fs

c.1993_1994fs

3 papers

NM_015335.5

p.E665_S666delFs

c.1994_1997del4