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

7 papers

NM_015335.5

p.T2162M

c.6485C>T

Surrounding Variants

3 papers

NM_015335.5

p.T2162K

c.6485C>A

7 papers

NM_015335.5

p.S2163L

c.6488C>T

1 paper

NM_015335.5

p.T2161P

c.6481A>C

1 paper

NM_015335.5

p.L2166F

c.6498A>T

1 paper

NM_015335.5

p.L2166F

c.6498A>C

1 paper

NM_015335.5

p.R2152Q

c.6455G>A

1 paper

NM_015335.5

p.N2149D

c.6445A>G

1 paper

NM_015335.5

p.L2144H

c.6431T>A

1 paper

NM_015335.5

p.H2134H

c.6402C>T

3 papers

NM_015335.5

p.S2131L

c.6392C>T

1 paper

NM_015335.5

p.K2129_A2130Splc

c.6388-64C>T

1 paper

NM_015335.5

p.R2167Splc

c.6501-2A>G