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.R1903H

c.5708G>A

Surrounding Variants

1 paper

NM_015335.5

p.R1900Q

c.5699G>A

5 papers

NM_015335.5

p.R1900*

c.5698C>T

10 papers

NM_015335.5

p.G1899R

c.5695G>C

10 papers

NM_015335.5

p.G1899R

c.5695G>A

1 paper

NM_015335.5

p.E1908K

c.5722G>A

1 paper

NM_015335.5

p.L1876_K1878delFs

c.5626_5633del8

1 paper

NM_015335.5

p.L1876fs

c.5626_5627fs

12 papers

NM_015335.5

p.R1872H

c.5615G>A

1 paper

NM_015335.5

p.R1872C

c.5614C>T

1 paper

NM_015335.5

p.R1865Q

c.5594G>A

4 papers

NM_015335.5

p.R1863Splc

c.5588+1G>A

1 paper

NM_015335.5

p.A1859A

c.5577T>G