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.R1406_L1408insFs

c.4218_4224dup7

Surrounding Variants

1 paper

NM_015335.5

p.L1409fs

c.4225_4226fs

1 paper

NM_015335.5

p.W1404S

c.4211G>C

2 papers

NM_015335.5

p.S1400_P1402del0

c.4200_4205del6

1 paper

NM_015335.5

p.R1416C

c.4246C>T

6 papers

NM_015335.5

p.R1416H

c.4247G>A

1 paper

NM_015335.5

p.D1417G

c.4250A>G

1 paper

NM_015335.5

p.R1416_A1419del4

c.4246_4256del12

1 paper

NM_015335.5

p.E1428*

c.4282G>T

1 paper

NM_015335.5

p.P1379P

c.4137G>A

1 paper

NM_015335.5

p.E1378*

c.4132G>T

1 paper

NM_015335.5

p.L1441F

c.4323G>T

1 paper

NM_015335.5

p.L1441F

c.4323G>C