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.Y1830C

c.5489A>G

Surrounding Variants

1 paper

NM_015335.5

p.V1828L

c.5482G>T

1 paper

NM_015335.5

p.V1828L

c.5482G>C

1 paper

NM_015335.5

p.H1834D

c.5500C>G

1 paper

NM_015335.5

p.V1825G

c.5474T>G

2 papers

NM_015335.5

p.N1824delFs

c.5471delT

2 papers

NM_015335.5

p.N1824fs

c.5470_5471fs

1 paper

NM_015335.5

p.Q1821*

c.5461C>T

1 paper

NM_015335.5

p.L1840fs

c.5518_5519fs

1 paper

NM_015335.5

p.L1840insFs

c.5519dupT

2 papers

NM_015335.5

p.A1819V

c.5456C>T

1 paper

NM_015335.5

p.E1818delFs

c.5453_5454delCT

1 paper

NM_015335.5

p.E1818fs

c.5452_5453fs