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.D2023G

c.6068A>G

Surrounding Variants

1 paper

NM_015335.5

p.M2025R

c.6074T>G

1 paper

NM_015335.5

p.D2023Splc

c.6068-8C>T

6 papers

NM_015335.5

p.G2040fs

c.6118_6119fs

3 papers

NM_015335.5

p.G2040_L2042delFs

c.6118_6125del8

1 paper

NM_015335.5

p.G2045W

c.6133G>T

1 paper

NM_015335.5

p.N2052S

c.6155A>G

1 paper

NM_015335.5

p.R2075_S2076Splc

c.6225+1G>A

3 papers

NM_015335.5

p.S2002L

c.6005C>T

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