Varaico: Literature-Extracted Genetic Variants

MED12

1,019 papers

RefSeq Summary

The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Me...

Pfam Domains

Med12aa 104–161UCSCTranscription mediator complex subunit Med12

Med12-LCEWAVaa 286–757UCSCEukaryotic Mediator 12 subunit domain

Med12-PQLaa 1819–2022UCSCEukaryotic Mediator 12 catenin-binding domain

Gene Aliases

HGNC Name

mediator complex subunit 12

HGNC Previous Symbols

TNRC11; FGS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005120.3

p.R1205H

c.3614G>A

Surrounding Variants

2 papers

NM_005120.3

p.D1204E

c.3612C>A

2 papers

NM_005120.3

p.D1204E

c.3612C>G

1 paper

NM_005120.3

p.D1204Y

c.3610G>T

1 paper

NM_005120.3

p.C1203G

c.3607T>G

1 paper

NM_005120.3

p.S1202F

c.3605C>T

1 paper

NM_005120.3

p.A1209_A1210ins4

c.3625_3629ins12

1 paper

NM_005120.3

p.S1201Y

c.3602C>A

1 paper

NM_005120.3

p.R1200R

c.3600C>T

1 paper

NM_005120.3

p.A1210S

c.3628G>T

1 paper

NM_005120.3

p.R1200H

c.3599G>A

1 paper

NM_005120.3

p.Q1212delFs

c.3635delA

2 papers

NM_005120.3

p.G1198E

c.3593G>A