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

3 papers

NM_015335.5

p.S2002L

c.6005C>T

Surrounding Variants

3 papers

NM_015335.5

p.T1994_L1997del4

c.5980_5990del12

3 papers

NM_015335.5

p.L1997insFs

c.5990dupT

3 papers

NM_015335.5

p.L1997fs

c.5989_5990fs

1 paper

NM_015335.5

p.C1993Y

c.5978G>A

1 paper

NM_015335.5

p.S1992F

c.5975C>T

1 paper

NM_015335.5

p.S1983_Q1984delFs

c.5949_5950delGA

3 papers

NM_015335.5

p.Q1984fs

c.5950_5951fs

2 papers

NM_015335.5

p.Q1981*

c.5941C>T

1 paper

NM_015335.5

p.M1980T

c.5939T>C

1 paper

NM_015335.5

p.T1976T

c.5928T>C

3 papers

NM_015335.5

p.R1974*

c.5920C>T

1 paper

NM_015335.5

p.D1964Splc

c.5891-42G>C