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.Y243*

c.729C>A

Surrounding Variants

1 paper

NM_015335.5

p.Y243*

c.729C>G

1 paper

NM_015335.5

p.L247P

c.740T>C

1 paper

NM_015335.5

p.W239*

c.717G>A

1 paper

NM_015335.5

p.W239*

c.716G>A

1 paper

NM_015335.5

p.K249*

c.745A>T

1 paper

NM_015335.5

p.K250R

c.749A>G

1 paper

NM_015335.5

p.K249_K250del0

c.745_750del6

14 papers

NM_015335.5

p.E251G

c.752A>G

1 paper

NM_015335.5

p.K249_E251del0

c.746_751del6

1 paper

NM_015335.5

p.K234E

c.700A>G

1 paper

NM_015335.5

p.P230A

c.688C>G

1 paper

NM_015335.5

p.D257G

c.770A>G