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

12 papers

NM_015335.5

p.W1359*

c.4076G>A

Surrounding Variants

11 papers

NM_015335.5

p.W1359*

c.4077G>A

1 paper

NM_015335.5

p.H1363fs

c.4087_4088fs

1 paper

NM_015335.5

p.H1363delFs

c.4087delG

1 paper

NM_015335.5

p.H1352Y

c.4054C>T

1 paper

NM_015335.5

p.L1328M

c.3982T>A

2 papers

NM_015335.5

p.D1314_I1315delFs

c.3942_3943delTG

1 paper

NM_015335.5

p.I1315fs

c.3943_3944fs

1 paper

NM_015335.5

p.G1372Splc

c.4115-2A>C

1 paper

NM_015335.5

p.G1372Splc

c.4115-1G>T

2 papers

NM_015335.5

p.E1374fs

c.4120_4121fs

3 papers

NM_015335.5

p.E1374delFs

c.4120delC

1 paper

NM_015335.5

p.E1378*

c.4132G>T