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.H428_K429insFs

c.1284_1285ins11

Surrounding Variants

1 paper

NM_015335.5

p.K429fs

c.1285_1286fs

1 paper

NM_015335.5

p.V444L

c.1330G>C

1 paper

NM_015335.5

p.P447S

c.1339C>T

1 paper

NM_015335.5

p.S454*

c.1361C>G

1 paper

NM_015335.5

p.S454*

c.1361C>A

1 paper

NM_015335.5

p.S456C

c.1367C>G

1 paper

NM_015335.5

p.Q473fs

c.1417_1418fs

1 paper

NM_015335.5

p.R472_Q473delFs

c.1416_1419del4

1 paper

NM_015335.5

p.P483T

c.1447C>A

1 paper

NM_015335.5

p.Q506*

c.1516C>T

1 paper

NM_015335.5

p.L517fs

c.1549_1550fs

1 paper

NM_015335.5

p.S516_L517delFs

c.1548_1549delAG