Varaico: Literature-Extracted Genetic Variants

MED25

144 papers

RefSeq Summary

This gene encodes a component of the transcriptional coactivator complex termed the Mediator complex. This complex is required for transcription of most RNA polymerase II-dependent genes. The encoded ...

Pfam Domains

Med25_VWAaa 12–226UCSCMediator complex subunit 25 von Willebrand factor type A

Med25_SD1aa 234–383UCSCMediator complex subunit 25 synapsin 1

Med25aa 396–546UCSCMediator complex subunit 25 PTOV activation and synapsin 2

zf-C2H2_12aa 729–791UCSCSpin-doc/GT2D2, zinc finger domain

Gene Aliases

HGNC Name

mediator complex subunit 25

HGNC Alias Symbols

ARC92; ACID1; TCBAP0758; DKFZp434K0512

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_030973.4

p.Q593fs

c.1777_1778fs

Surrounding Variants

3 papers

NM_030973.4

p.Q593delFs

c.1778_1779delAG

1 paper

NM_030973.4

p.R586H

c.1757G>A

1 paper

NM_030973.4

p.G609S

c.1825G>A

1 paper

NM_030973.4

p.Q619H

c.1857A>C

1 paper

NM_030973.4

p.Q619H

c.1857A>T

1 paper

NM_030973.4

p.P621S

c.1861C>T

1 paper

NM_030973.4

p.A564V

c.1691C>T

3 papers

NM_030973.4

p.P656T

c.1966C>A

1 paper

NM_030973.4

p.A665T

c.1993G>A

1 paper

NM_030973.4

p.A677A

c.2031G>A

1 paper

NM_030973.4

p.G685C

c.2053G>T

1 paper

NM_030973.4

p.L686P

c.2057T>C